R157C (p.Arg157Cys) variant of ATP6V1B1 (P15313)
R157C (p.Arg157Cys) in ATP6V1B1 (P15313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Renal tubular acidosis with progressive nerve deafness. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R157C (p.Arg157Cys) variant details
- p.Arg157Cys
- rs782500780
- ClinGen CA1701066
- ClinVar RCV001054360
- ClinVar RCV001836093
- Pathogenic/Likely pathogenic
- not provided; Renal tubular acidosis with progressive nerve deafness
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.93
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Renal tubular acidosis with progressive nerve deaf)
- EBI: Pathogenic (in DRTA2)
- UniProt: Pathogenic (in DRTA2)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)