Y23C (p.Tyr23Cys) variant of ATP6V0A4 (Q9HBG4)
Y23C (p.Tyr23Cys) 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; I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
Y23C (p.Tyr23Cys) variant details
- p.Tyr23Cys
- ExAC rs766968071
- TOPMed rs766968071
- gnomAD rs766968071
- Uncertain significance
- Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss; I
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.75
- MetaLR 0.81
- MetaSVM 0.87
- CADD 26.60
- ClinVar: Uncertain significance (Renal tubular acidosis, distal, 3, with or without sensorineural)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available