E72K (p.Glu72Lys) variant of ADD1 (Alpha-adducin)
E72K (p.Glu72Lys) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
E72K (p.Glu72Lys) variant details
- p.Glu72Lys
- gnomAD 4-2881916-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.25
- MetaSVM -0.47
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available