D32Y (p.Asp32Tyr) variant of GNAQ (P50148)
D32Y (p.Asp32Tyr) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
D32Y (p.Asp32Tyr) variant details
- p.Asp32Tyr
- Ensembl rs2118632230
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.79
- MetaLR 0.81
- MetaSVM 0.79
- CADD 28.40
- PolyPhen-2 0.79
- SIFT 0.01
- Population evidence available
- Structural context available