C58Y (p.Cys58Tyr) variant of ATP6V0A4 (Q9HBG4)
C58Y (p.Cys58Tyr) 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 0.89 / 1. The record also includes population frequency data and structural context.
C58Y (p.Cys58Tyr) variant details
- p.Cys58Tyr
- ExAC rs781671070
- TOPMed rs781671070
- gnomAD rs781671070
- Uncertain significance
- Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.82
- MetaSVM 0.80
- CADD 32.00
- ClinVar: Uncertain significance (Renal tubular acidosis, distal, 3, with or without sensorineural)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available