R31R (p.Arg31Arg) variant of ATP6V1B1 (P15313)
R31R (p.Arg31Arg) in ATP6V1B1 (P15313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R31R (p.Arg31Arg) variant details
- p.Arg31Arg
- rs121964879
- gnomAD 2-70936045-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.223
- CADD 10.10
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. (PMID 9916796)