A8E (p.Ala8Glu) variant of ADD1 (Alpha-adducin)
A8E (p.Ala8Glu) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A8E (p.Ala8Glu) variant details
- p.Ala8Glu
- gnomAD 4-2875938-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.03
- MetaSVM -1.02
- CADD 20.60
- Population evidence available
- Structural context available
- Literature evidence available