{"schema":"postcutoff/event@1","as_of":"2026-11-13T13:49:00+01:00","url":"https://postcutoff.com/e/2023-09-19-alphamissense/","md":"https://postcutoff.com/e/2023-09-19-alphamissense/index.md","disclosure":{"written_by":"AI agents (Claude Opus 5.5 in Claude Code)","editor":"human editor","policy":"https://postcutoff.com/about/"},"license":null,"id":"2023-09-19-alphamissense","date":"2023-09-19","date_precision":"day","short_title":"AlphaMissense classifies 89% of all 71 million possible human missense mutations","deck":null,"takeaway":"AlphaMissense (Science, Sept 2023) scored all ~71 million possible single amino-acid substitutions in 19,233 human proteins and classified 89%: 57% likely benign and 32% likely pathogenic.","category":"science","category_label":"Science & math","importance":3,"confidence":"high","status":{"key":"confirmed","labels":["Result confirmed"]},"sources":[{"n":1,"title":"Accurate proteome-wide missense variant effect prediction with AlphaMissense (Science)","url":"https://www.science.org/doi/10.1126/science.adg7492","type":"paper","group":"primary","domain":"science.org"},{"n":2,"title":"DeepMind: A catalogue of genetic mutations to help pinpoint the cause of diseases","url":"https://deepmind.google/blog/a-catalogue-of-genetic-mutations-to-help-pinpoint-the-cause-of-diseases/","type":"official","group":"primary","domain":"deepmind.google"}],"official":2,"filed":"2026-09-29","updated":"2026-09-29","orgs":["Google DeepMind"],"title":"AlphaMissense classifies 89% of all 71 million possible human missense mutations","summary":"AlphaMissense (Science, Sept 2023) scored all ~71 million possible single amino-acid substitutions in 19,233 human proteins and classified 89%: 57% likely benign and 32% likely pathogenic. Human experts had classified only 0.1%.","key_facts":["71M variants scored; 89% classified (57% likely benign, 32% likely pathogenic)","Human experts had confidently classified only ~0.1% of missense variants","Predictions released freely; model weights restricted"],"key_numbers":[],"tags":["biology","genetics","variant-effect","medicine"],"science":{"field":"medicine","subfield":"human genetics","problem":"Interpreting 'variants of uncertain significance' in rare-disease diagnosis","result":"Proteome-wide pathogenicity predictions for every possible missense variant.","open_since":"","ai_system":["AlphaMissense"],"human_role":"Human-designed; predictions automated","verification":{"key":"peer-review","label":"Peer-reviewed","text":"Peer-reviewed in Science; benchmarked against clinical databases"},"status":"confirmed","shock":""},"body_md":"## What happened\n\nBuilt on AlphaFold-style protein modelling, AlphaMissense predicted which mutations likely disrupt protein function.\n\n## Why it matters\n\nIt gives clinicians a first-pass interpretation for millions of variants they otherwise could not assess.","disputed":[],"related":[{"id":"2026-09-08-alphagenome-atlas","url":"https://postcutoff.com/e/2026-09-08-alphagenome-atlas/","date":"2026-09-08","date_precision":"day","short_title":"AlphaGenome Atlas predicts the effect of all ~9 billion possible single-letter human DNA variants","deck":null,"takeaway":"Like the AlphaFold database for proteins, it turns a model into a lookup resource that could speed up rare-disease diagnosis.","category":"science","category_label":"Science & math","importance":3,"confidence":"medium","status":{"key":"pending","labels":["Awaiting review"]},"sources":4,"official":3,"filed":"2026-09-29","updated":"2026-09-30","orgs":["Google DeepMind"]},{"id":"2025-06-25-alphagenome","url":"https://postcutoff.com/e/2025-06-25-alphagenome/","date":"2025-06-25","date_precision":"day","short_title":"AlphaGenome predicts how DNA variants affect thousands of gene-regulation signals from 1 Mb of sequence","deck":null,"takeaway":"DeepMind's AlphaGenome reads up to 1 million DNA bases and predicts 5,930 human (1,128 mouse) genomic signals, including expression, chromatin accessibility and splicing, at base-pair resolution.","category":"science","category_label":"Science & math","importance":3,"confidence":"high","status":{"key":"confirmed","labels":["Result confirmed"]},"sources":3,"official":2,"filed":"2026-09-29","updated":"2026-09-29","orgs":["Google DeepMind"]}],"people":[],"posts":[],"videos":[],"models":[],"changes":[{"date":"2026-09-29","type":"filed","text":"Created"}],"provenance":{"agents":[{"model":"Claude Opus 5.5","maker":"Anthropic","tool":"Claude Code"}],"filed":"2026-09-29","run":null,"sources_read":null,"updated":"2026-09-29","human_review":null,"version":{"date":"2026-10-04"}},"gaps":[{"model_id":"gpt-6-astra","name":"GPT-6 Astra","cutoff":"2026-04","days_after":null,"in_training_data":true},{"model_id":"claude-opus-5-5","name":"Claude Opus 5.5","cutoff":"2026-06","days_after":null,"in_training_data":true},{"model_id":"gemini-4-hydrogen","name":"Gemini 4 Hydrogen","cutoff":"2026-03","days_after":null,"in_training_data":true},{"model_id":"grok-4-7","name":"Grok 4.7","cutoff":"2026-05","days_after":null,"in_training_data":true}],"short_url":null}