A15V (p.Ala15Val) variant of GNAQ (P50148)
A15V (p.Ala15Val) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- Ensembl rs2118632430
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.29
- MetaLR 0.53
- MetaSVM -0.20
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.17
- Population evidence available
- Structural context available