E17G (p.Glu17Gly) variant of GNA11 (P29992)
E17G (p.Glu17Gly) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
E17G (p.Glu17Gly) variant details
- p.Glu17Gly
- gnomAD 19-3094701-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.75
- CADD 31.00
- PolyPhen-2 0.97
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available