G46W (p.Gly46Trp) variant of GNAQ (P50148)
G46W (p.Gly46Trp) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G46W (p.Gly46Trp) variant details
- p.Gly46Trp
- Ensembl rs2118632073
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.87
- MetaLR 0.98
- MetaSVM 1.03
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.03
- Population evidence available
- Structural context available