Benefit Ledger · verified · Medicine & Health
DeepMind released AlphaMissense and a catalog covering about 71 million human missense variants, classifying 89 percent as likely benign or likely pathogenic, in Science on 19 September 2023.
Current score
+2.65
Widely used proteome-wide resource (tier 3). High model attribution. Peer review. Realization is a public database used in research, not a diagnostic device. Scores will be revised as evidence accumulates.
AlphaMissense adapts AlphaFold-style modeling and is fine-tuned on population-frequency labels rather than ClinVar. The authors reported strong benchmark performance without training on those clinical labels and released proteome-wide scores. The resource is explicitly not approved for clinical diagnosis. Clinical labs may use scores as one input among many.
Predicted missense pathogenicity for all possible human substitutions.
The catalog is the model’s output.
Attribution 0.9000 · Credit share 100% · Google DeepMind
AlphaMissense provided scores for all 71 million possible human missense variants and classified 89 percent at the authors’ threshold.
outcome · supported
AlphaMissense is an approved standalone clinical diagnostic.
outcome · disputed
primary sources
Science · peer reviewed · 19 Sep 2023 · peer reviewed
Google DeepMind · developer announcement · 19 Sep 2023
Secondary domains: Biology
13 Sep 2026 · 0.00 → 2.65
Initial adjudicated seed score under methodology 0.1.