R34W (p.Arg34Trp) variant of GNAQ (P50148)
R34W (p.Arg34Trp) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
R34W (p.Arg34Trp) variant details
- p.Arg34Trp
- Ensembl rs2118632211
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.68
- MetaLR 0.79
- MetaSVM 0.54
- CADD 28.30
- PolyPhen-2 0.83
- SIFT 0.02
- Population evidence available
- Structural context available