A23D (p.Ala23Asp) variant of GNA11 (P29992)
A23D (p.Ala23Asp) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A23D (p.Ala23Asp) variant details
- p.Ala23Asp
- gnomAD 19-3094719-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.25
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available