R27R (p.Arg27Arg) variant of ADD1 (Alpha-adducin)
R27R (p.Arg27Arg) in ADD1 (Alpha-adducin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R27R (p.Arg27Arg) variant details
- p.Arg27Arg
- gnomAD 4-2875994-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.247
- CADD 8.73
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available