R807Q (p.Arg807Gln) variant of ATP6V0A4 (Q9HBG4)
R807Q (p.Arg807Gln) in ATP6V0A4 (Q9HBG4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss; n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R807Q (p.Arg807Gln) variant details
- p.Arg807Gln
- rs28939081
- ClinGen CA117298
- ClinVar RCV000005466
- ClinVar RCV001557688
- Pathogenic/Likely pathogenic
- Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.07
- CADD 29.10
- ClinVar: Pathogenic/Likely pathogenic (Renal tubular acidosis, distal, 3, with or without sensorineural)
- EBI: Pathogenic (in DRTA3)
- UniProt: Pathogenic (in DRTA3)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)