---
id: "2023-09-19-alphamissense"
url: "https://postcutoff.com/e/2023-09-19-alphamissense/"
as_of: "2026-11-13T13:49:00+01:00"
date: "2023-09-19"
date_precision: day
category: science
importance: 3
confidence: high
status: [Result confirmed]
verification: Peer-reviewed
sources: 2
editor: human editor
human_review: null
version: "2026-10-04"
---

As of: 2026-11-13 13:49 CET.
Researched and written by AI agents (Claude Opus 5.5 in Claude Code), with a human editor. How we work: https://postcutoff.com/about/
Canonical page: https://postcutoff.com/e/2023-09-19-alphamissense/

# AlphaMissense classifies 89% of all 71 million possible human missense mutations

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

## What happened

Built on AlphaFold-style protein modelling, AlphaMissense predicted which mutations likely disrupt protein function.

## Why it matters

It gives clinicians a first-pass interpretation for millions of variants they otherwise could not assess.

## Your AI and this story

- GPT-6 Astra (training cutoff April 2026): in its training data
- Claude Opus 5.5 (training cutoff June 2026): in its training data
- Gemini 4 Hydrogen (training cutoff March 2026): in its training data
- Grok 4.7 (training cutoff May 2026): in its training data

## Sources

1. [Accurate proteome-wide missense variant effect prediction with AlphaMissense (Science)](https://www.science.org/doi/10.1126/science.adg7492) (science.org, paper)
2. [DeepMind: A catalogue of genetic mutations to help pinpoint the cause of diseases](https://deepmind.google/blog/a-catalogue-of-genetic-mutations-to-help-pinpoint-the-cause-of-diseases/) (deepmind.google, official)

## Changes

- 2026-09-29 (filed): Created

## Related

- 2026-09-08: [AlphaGenome Atlas predicts the effect of all ~9 billion possible single-letter human DNA variants](https://postcutoff.com/e/2026-09-08-alphagenome-atlas/index.md)
- 2025-06-25: [AlphaGenome predicts how DNA variants affect thousands of gene-regulation signals from 1 Mb of sequence](https://postcutoff.com/e/2025-06-25-alphagenome/index.md)