R56R (p.Arg56Arg) variant of ATP6V1A (P38606)
R56R (p.Arg56Arg) in ATP6V1A (P38606) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R56R (p.Arg56Arg) variant details
- p.Arg56Arg
- gnomAD 3-113781133-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.563
- CADD 20.40
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available