C9Y (p.Cys9Tyr) variant of GNAQ (P50148)
C9Y (p.Cys9Tyr) in GNAQ (P50148) 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 rs2118632499
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.75
- MetaLR 0.83
- MetaSVM 0.86
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available