AlphaMissense
AlphaFold-derived model classifying 89% of all 71 million human missense variants as likely pathogenic or likely benign.
Uses AlphaFold structure context plus language-model signals, trained on human and primate population variant frequencies, to score variant pathogenicity. Of 71M possible variants, 57% called likely benign and 32% likely pathogenic, versus 0.1% confirmed by experts. Predictions and code released.
- Date
- Tuesday, 19 September 2023
- Lab
- Google DeepMind
- Kind
- model
- Access
- research preview
Figures
| Measure | Value | Measured by |
|---|---|---|
| Variants classified | 89% of 71M 57% likely benign, 32% likely pathogenic | company |
Published in Science 2023-09-19. Predictions free for research and commercial use, code open-sourced; scores are probabilistic, not clinical diagnoses.
Sources
- deepmind.google/blog/alphamissense-catalogue-of-genetic-mutations-to-help-pinpoint-the-cau
- www.technologyreview.com/2023/09/19/1079871/deepmind-alphamissense-ai-pinpoint-causes-gene
This record was checked against its sources on 6 October 2026. How we check