E39K (p.Glu39Lys) variant of GNA11 (P29992)
E39K (p.Glu39Lys) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
E39K (p.Glu39Lys) variant details
- p.Glu39Lys
- gnomAD 19-3094766-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.74
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available