G51V (p.Gly51Val) variant of GNAQ (P50148)
G51V (p.Gly51Val) in GNAQ (P50148) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data and structural context.
G51V (p.Gly51Val) variant details
- p.Gly51Val
- NCI-TCGA Cosmic COSV5410
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- REVEL 0.99
- MetaLR 0.99
- MetaSVM 0.96
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available