C10Y (p.Cys10Tyr) variant of GNA11 (P29992)
C10Y (p.Cys10Tyr) in GNA11 (P29992) 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.
C10Y (p.Cys10Tyr) variant details
- p.Cys10Tyr
- gnomAD 19-3094680-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.77
- CADD 27.20
- PolyPhen-2 0.97
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available