Missing values mean the catalog has no recorded information. They do not mean a feature is absent.
Entry typeAI Model & Database
Access modeOpen Access (Research)
AI roleClinical Pathogenicity Classification
Input dataNot recorded
Output dataNot recorded
Licence conditionsCode: Apache 2.0; Predictions/Data: CC BY-NC 4.0
Commercial eligibilityResearch use only (non-commercial clinical evaluation)
Compute requirementsPre-computed database lookup (trained weights for arbitrary novel sequences not published)
ValidationNot recorded
TypeStructural variant effect prediction model & database
Intended useNot recorded
CompatibilityNot recorded
ManufacturerGoogle DeepMind
Biological applicationRare disease diagnosis, oncogenic driver mutation identification, and human genetics
Research workflowQuery missense variant (e.g. BRCA1 p.Cys61Gly) -> obtain pathogenicity score (0 to 1)
Evidence levelPeer-reviewed research (Science 2023)
Integration evidencehttps://github.com/google-deepmind/alphamissense
Laboratory handoffInforms targeted functional genomics assays (Deep Mutational Scanning)
AvailabilityAvailable on GitHub and Ensembl / ClinVar cross-references
Price / accessFree Open Access