L81P (p.Leu81Pro) variant of ATP6V1B1 (P15313)
L81P (p.Leu81Pro) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
L81P (p.Leu81Pro) variant details
- p.Leu81Pro
- rs121964880
- ClinGen CA121985
- ClinVar RCV000013014
- ClinVar RCV000662318
- Pathogenic/Likely pathogenic
- not provided; Renal tubular acidosis with progressive nerve deafness
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.94
- CADD 29.80
- 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 2.2e-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)