A18V (p.Ala18Val) variant of GNAQ (P50148)
A18V (p.Ala18Val) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- Ensembl rs2118632423
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.52
- MetaLR 0.70
- MetaSVM 0.28
- CADD 24.40
- PolyPhen-2 0.34
- SIFT 0.03
- Population evidence available
- Structural context available