E69A (p.Glu69Ala) variant of ADD1 (Alpha-adducin)
E69A (p.Glu69Ala) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E69A (p.Glu69Ala) variant details
- p.Glu69Ala
- rs745933841
- gnomAD 4-2881908-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.29
- ESM-1b 1.00
- AlphaMissense 0.50
- MetaLR 0.17
- MetaSVM -0.75
- CADD 29.80
- Population evidence available
- Structural context available
- Literature evidence available