I21V (p.Ile21Val) variant of GNAQ (P50148)
I21V (p.Ile21Val) 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.
I21V (p.Ile21Val) variant details
- p.Ile21Val
- Ensembl rs2118632350
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.37
- MetaLR 0.57
- MetaSVM -0.03
- CADD 21.70
- PolyPhen-2 0.17
- SIFT 0.02
- Population evidence available
- Structural context available