R31G (p.Arg31Gly) variant of GNAQ (P50148)
R31G (p.Arg31Gly) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R31G (p.Arg31Gly) variant details
- p.Arg31Gly
- Ensembl rs2118632241
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.52
- MetaLR 0.71
- MetaSVM 0.21
- CADD 25.10
- PolyPhen-2 0.41
- SIFT 0.02
- Population evidence available
- Structural context available