A8V (p.Ala8Val) variant of GNAQ (P50148)
A8V (p.Ala8Val) 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.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- Ensembl rs1824054288
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.39
- MetaLR 0.45
- MetaSVM -0.45
- CADD 18.40
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available