E39D (p.Glu39Asp) variant of GNAQ (P50148)
E39D (p.Glu39Asp) 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.
E39D (p.Glu39Asp) variant details
- p.Glu39Asp
- Ensembl rs2118632158
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.51
- MetaLR 0.54
- MetaSVM -0.16
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available