E22D (p.Glu22Asp) variant of ADD1 (Alpha-adducin)
E22D (p.Glu22Asp) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E22D (p.Glu22Asp) variant details
- p.Glu22Asp
- rs1450809336
- gnomAD 4-2875981-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.74
- MetaLR 0.23
- MetaSVM -0.65
- CADD 24.90
- Population evidence available
- Structural context available
- Literature evidence available