E4D (p.Glu4Asp) variant of GNAQ (P50148)
E4D (p.Glu4Asp) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E4D (p.Glu4Asp) variant details
- p.Glu4Asp
- Ensembl rs1059518
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.31
- MetaLR 0.29
- MetaSVM -0.87
- CADD 8.31
- PolyPhen-2 0.00
- SIFT 0.34
- Population evidence available
- Structural context available