E24D (p.Glu24Asp) variant of GNA11 (P29992)
E24D (p.Glu24Asp) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E24D (p.Glu24Asp) variant details
- p.Glu24Asp
- gnomAD 19-3094723-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.36
- CADD 24.50
- PolyPhen-2 0.52
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available