R20W (p.Arg20Trp) variant of GNAQ (P50148)
R20W (p.Arg20Trp) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
R20W (p.Arg20Trp) variant details
- p.Arg20Trp
- Ensembl rs2118632370
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.66
- MetaLR 0.82
- MetaSVM 0.57
- CADD 23.80
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available