A8S (p.Ala8Ser) variant of GNA11 (P29992)
A8S (p.Ala8Ser) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A8S (p.Ala8Ser) variant details
- p.Ala8Ser
- gnomAD 19-3094673-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.41
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available