Q112E (p.Gln112Glu) variant of ATP6V0A4 (Q9HBG4)
Q112E (p.Gln112Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
Q112E (p.Gln112Glu) variant details
- p.Gln112Glu
- ExAC rs779869631
- TOPMed rs779869631
- gnomAD rs779869631
- Uncertain significance
- Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.16
- ESM-1b 0.07
- AlphaMissense 0.09
- MetaLR 0.27
- MetaSVM -0.76
- CADD 16.50
- ClinVar: Uncertain significance (Renal tubular acidosis, distal, 3, with or without sensorineural)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available