R66C (p.Arg66Cys) variant of ATP6V0A4 (Q9HBG4)
R66C (p.Arg66Cys) 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; n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R66C (p.Arg66Cys) variant details
- p.Arg66Cys
- rs146911574
- ClinGen CA4505220
- ClinVar RCV003848754
- ClinVar RCV005038574
- Uncertain significance
- Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.17
- MetaLR 0.86
- MetaSVM 0.96
- 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 African/African-American population (allele frequency 7.3e-05)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)