L45I (p.Leu45Ile) variant of ADD1 (Alpha-adducin)
L45I (p.Leu45Ile) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L45I (p.Leu45Ile) variant details
- p.Leu45Ile
- rs1731236841
- gnomAD 4-2876048-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.15
- ESM-1b 1.00
- AlphaMissense 0.56
- MetaLR 0.12
- MetaSVM -1.06
- CADD 26.20
- Population evidence available
- Structural context available
- Literature evidence available