E69G (p.Glu69Gly) variant of ADD1 (Alpha-adducin)
E69G (p.Glu69Gly) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E69G (p.Glu69Gly) variant details
- p.Glu69Gly
- rs745933841
- gnomAD 4-2881908-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.31
- ESM-1b 1.00
- AlphaMissense 0.45
- MetaLR 0.18
- MetaSVM -0.73
- CADD 27.30
- Population evidence available
- Structural context available
- Literature evidence available