D29Y (p.Asp29Tyr) variant of ADD1 (Alpha-adducin)
D29Y (p.Asp29Tyr) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
D29Y (p.Asp29Tyr) variant details
- p.Asp29Tyr
- rs374139420
- gnomAD 4-2876000-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.21
- MetaSVM -0.70
- CADD 26.60
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available
- Literature evidence available