A22S (p.Ala22Ser) variant of GNAS (P63092)
A22S (p.Ala22Ser) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A22S (p.Ala22Ser) variant details
- p.Ala22Ser
- cosmic curated COSV55683
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.32
- CADD 19.40
- PolyPhen-2 0.20
- SIFT 0.31
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.4e-05)
- Structural context available