G46R (p.Gly46Arg) variant of GNAQ (P50148)
G46R (p.Gly46Arg) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G46R (p.Gly46Arg) variant details
- p.Gly46Arg
- Ensembl rs2118632073
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.91
- MetaLR 0.98
- MetaSVM 1.06
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.26
- Population evidence available
- Structural context available