R6Q (p.Arg6Gln) variant of ATP6V0A4 (Q9HBG4)
R6Q (p.Arg6Gln) in ATP6V0A4 (Q9HBG4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R6Q (p.Arg6Gln) variant details
- p.Arg6Gln
- rs147512254
- ClinGen CA4505274
- cosmic curated COSV59480
- ClinVar RCV001164279
- Uncertain significance
- Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss; A
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.59
- MetaLR 0.91
- MetaSVM 1.08
- CADD 27.40
- ClinVar: Uncertain significance (Renal tubular acidosis, distal, 3, with or without sensorineural)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)