A23S (p.Ala23Ser) variant of GNA11 (P29992)
A23S (p.Ala23Ser) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A23S (p.Ala23Ser) variant details
- p.Ala23Ser
- gnomAD 19-3094718-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.29
- CADD 23.10
- PolyPhen-2 0.11
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available