R42R (p.Arg42Arg) variant of ATP6V1B1 (P15313)
R42R (p.Arg42Arg) in ATP6V1B1 (P15313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R42R (p.Arg42Arg) variant details
- p.Arg42Arg
- rs782309945
- gnomAD 2-70943665-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.476
- CADD 10.90
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available