E39G (p.Glu39Gly) variant of GNA11 (P29992)
E39G (p.Glu39Gly) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
E39G (p.Glu39Gly) variant details
- p.Glu39Gly
- gnomAD 19-3094767-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.81
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available