V9L (p.Val9Leu) variant of ADD1 (Alpha-adducin)
V9L (p.Val9Leu) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
V9L (p.Val9Leu) variant details
- p.Val9Leu
- rs191878690
- gnomAD 4-2875940-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.20
- ESM-1b 1.00
- AlphaMissense 0.48
- MetaLR 0.18
- MetaSVM -0.82
- CADD 27.90
- Population evidence available
- Structural context available
- Literature evidence available