V116A (p.Val116Ala) variant of GNAQ (P50148)
V116A (p.Val116Ala) 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 0.51 / 1. The record also includes population frequency data and structural context.
V116A (p.Val116Ala) variant details
- p.Val116Ala
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.47
- MetaLR 0.61
- MetaSVM -0.10
- CADD 22.70
- PolyPhen-2 0.31
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available