E38G (p.Glu38Gly) variant of ADD1 (Alpha-adducin)
E38G (p.Glu38Gly) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E38G (p.Glu38Gly) variant details
- p.Glu38Gly
- rs771709417
- gnomAD 4-2876028-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.28
- ESM-1b 1.00
- AlphaMissense 0.78
- MetaLR 0.13
- MetaSVM -1.04
- CADD 26.70
- Population evidence available
- Structural context available
- Literature evidence available