C9Y (p.Cys9Tyr) variant of GNA11 (P29992)
C9Y (p.Cys9Tyr) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
C9Y (p.Cys9Tyr) variant details
- p.Cys9Tyr
- Ensembl rs2145300284
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.80
- CADD 29.70
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available