D44E (p.Asp44Glu) variant of ADD1 (Alpha-adducin)
D44E (p.Asp44Glu) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
D44E (p.Asp44Glu) variant details
- p.Asp44Glu
- gnomAD 4-2876047-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.18
- MetaSVM -0.83
- CADD 22.80
- Population evidence available
- Structural context available
- Literature evidence available