L45R (p.Leu45Arg) variant of ADD1 (Alpha-adducin)
L45R (p.Leu45Arg) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L45R (p.Leu45Arg) variant details
- p.Leu45Arg
- gnomAD 4-2876049-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.21
- MetaSVM -0.64
- CADD 29.90
- Population evidence available
- Structural context available
- Literature evidence available