G74D (p.Gly74Asp) variant of GNAQ (P50148)
G74D (p.Gly74Asp) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
G74D (p.Gly74Asp) variant details
- p.Gly74Asp
- Ensembl rs2118276343
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.49
- MetaLR 0.57
- MetaSVM -0.16
- CADD 22.70
- PolyPhen-2 0.05
- SIFT 0.03
- Population evidence available
- Structural context available