Y35C (p.Tyr35Cys) variant of ADD1 (Alpha-adducin)
Y35C (p.Tyr35Cys) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Y35C (p.Tyr35Cys) variant details
- p.Tyr35Cys
- gnomAD 4-2876019-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.37
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.20
- MetaSVM -0.71
- CADD 28.80
- Population evidence available
- Structural context available
- Literature evidence available