R27W (p.Arg27Trp) variant of GNAQ (P50148)
R27W (p.Arg27Trp) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R27W (p.Arg27Trp) variant details
- p.Arg27Trp
- ExAC rs767021243
- gnomAD rs767021243
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.68
- MetaLR 0.80
- MetaSVM 0.57
- CADD 28.80
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available