R38Q (p.Arg38Gln) variant of GNAQ (P50148)
R38Q (p.Arg38Gln) 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.
R38Q (p.Arg38Gln) variant details
- p.Arg38Gln
- Ensembl rs2118632170
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.36
- MetaLR 0.39
- MetaSVM -0.41
- CADD 23.90
- PolyPhen-2 0.21
- SIFT 0.00
- Population evidence available
- Structural context available