R20L (p.Arg20Leu) variant of GNAQ (P50148)
R20L (p.Arg20Leu) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
R20L (p.Arg20Leu) variant details
- p.Arg20Leu
- Ensembl rs2118632361
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.69
- MetaLR 0.73
- MetaSVM 0.53
- CADD 24.70
- PolyPhen-2 0.73
- SIFT 0.01
- Population evidence available
- Structural context available