R46L (p.Arg46Leu) variant of ADD1 (Alpha-adducin)
R46L (p.Arg46Leu) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R46L (p.Arg46Leu) variant details
- p.Arg46Leu
- rs767055661
- gnomAD 4-2876052-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.22
- MetaSVM -0.63
- CADD 32.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available