E17D (p.Glu17Asp) variant of GNA11 (P29992)
E17D (p.Glu17Asp) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E17D (p.Glu17Asp) variant details
- p.Glu17Asp
- gnomAD 19-3094702-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.47
- CADD 23.20
- PolyPhen-2 0.97
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available