L45V (p.Leu45Val) variant of ADD1 (Alpha-adducin)
L45V (p.Leu45Val) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L45V (p.Leu45Val) variant details
- p.Leu45Val
- rs1731236841
- gnomAD 4-2876048-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.21
- ESM-1b 0.75
- AlphaMissense 0.79
- MetaLR 0.20
- MetaSVM -0.77
- CADD 26.60
- Population evidence available
- Structural context available
- Literature evidence available