E14G (p.Glu14Gly) variant of GNA11 (P29992)
E14G (p.Glu14Gly) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
E14G (p.Glu14Gly) variant details
- p.Glu14Gly
- gnomAD rs1338184866
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.73
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.03
- Population evidence available
- Structural context available