R19Q (p.Arg19Gln) variant of GNAQ (P50148)
R19Q (p.Arg19Gln) 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.
R19Q (p.Arg19Gln) variant details
- p.Arg19Gln
- Ensembl rs2118632387
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.31
- MetaLR 0.39
- MetaSVM -0.57
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.25
- Population evidence available
- Structural context available