R56R (p.Arg56Arg) variant of ATP6V1B1 (P15313)
R56R (p.Arg56Arg) in ATP6V1B1 (P15313) 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.
R56R (p.Arg56Arg) variant details
- p.Arg56Arg
- rs1438456940
- gnomAD 2-70943707-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.247
- CADD 7.64
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available