P346R (p.Pro346Arg) variant of ATP6V1B1 (P15313)
P346R (p.Pro346Arg) in ATP6V1B1 (P15313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Renal tubular acidosis with progressive nerve deafness; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
P346R (p.Pro346Arg) variant details
- p.Pro346Arg
- rs781838938
- ClinGen CA1701229
- ClinVar RCV000299711
- ClinVar RCV000763500
- Pathogenic
- Renal tubular acidosis with progressive nerve deafness; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.96
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Renal tubular acidosis with progressive nerve deafness; not prov)
- EBI: Pathogenic (in DRTA2)
- UniProt: Pathogenic (in DRTA2)
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for… (PMID 12414817)
- Cited in: Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. (PMID 12579397)