V28L (p.Val28Leu) variant of ADD1 (Alpha-adducin)
V28L (p.Val28Leu) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V28L (p.Val28Leu) variant details
- p.Val28Leu
- rs769883303
- gnomAD 4-2875997-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.10
- ESM-1b 1.00
- AlphaMissense 0.69
- MetaLR 0.15
- MetaSVM -1.01
- CADD 24.20
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available