D354N (p.Asp354Asn) variant of ATP6V1B1 (P15313)
D354N (p.Asp354Asn) in ATP6V1B1 (P15313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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.
D354N (p.Asp354Asn) variant details
- p.Asp354Asn
- rs782484337
- ClinGen CA1701236
- ClinVar RCV001843691
- ClinVar RCV003560870
- Likely pathogenic
- not provided; Renal tubular acidosis with progressive nerve deafness
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.79
- CADD 36.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Renal tubular acidosis with progressive nerve deaf)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)