R31* (p.Arg31Ter) variant of ATP6V1B1 (P15313)
R31* (p.Arg31Ter) in ATP6V1B1 (P15313) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R31* (p.Arg31Ter) variant details
- p.Arg31Ter
- rs121964879
- gnomAD 2-70936045-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.421
- CADD 38.00
- Most common in the Non-Finnish European population (allele frequency 6.3e-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)