A273G (p.Ala273Gly) variant of SHANK3 (Q9BYB0)
A273G (p.Ala273Gly) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A273G (p.Ala273Gly) variant details
- p.Ala273Gly
- rs1232069989
- UniProt VAR 032805
- 1000Genomes rs1232069989
- TOPMed rs1232069989
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- AlphaMissense 0.21
- MetaLR 0.16
- MetaSVM -0.82
- MutPred 0.61
- Population evidence available
- Structural context available
- Cited in: Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. (PMID 17173049)