R743W (p.Arg743Trp) variant of ATP6V0A4 (Q9HBG4)
R743W (p.Arg743Trp) in ATP6V0A4 (Q9HBG4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss; A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R743W (p.Arg743Trp) variant details
- p.Arg743Trp
- rs770052600
- ClinGen CA4504497
- NCI-TCGA Cosmic COSV5947
- cosmic curated COSV59472
- Likely pathogenic
- Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss; A
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.07
- CADD 33.00
- ClinVar: Likely pathogenic (Renal tubular acidosis, distal, 3, with or without sensorineural)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)