A22V (p.Ala22Val) variant of GNAS (P63092)
A22V (p.Ala22Val) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- gnomAD 20-58840189-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- CADD 23.80
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available