D44H (p.Asp44His) variant of ADD1 (Alpha-adducin)
D44H (p.Asp44His) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
D44H (p.Asp44His) variant details
- p.Asp44His
- gnomAD 4-2876045-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.28
- MetaSVM -0.44
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available