R27L (p.Arg27Leu) variant of ADD1 (Alpha-adducin)
R27L (p.Arg27Leu) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R27L (p.Arg27Leu) variant details
- p.Arg27Leu
- rs748260808
- gnomAD 4-2875995-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.47
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.22
- MetaSVM -0.63
- CADD 24.60
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available
- Literature evidence available