R449C (p.Arg449Cys) variant of ATP6V0A4 (Q9HBG4)
R449C (p.Arg449Cys) in ATP6V0A4 (Q9HBG4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Renal tubular acidosis, distal, 3, with or without sensorineural h. 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.
R449C (p.Arg449Cys) variant details
- p.Arg449Cys
- rs370861594
- ClinGen CA4504792
- cosmic curated COSV59478
- ClinVar RCV001229476
- Pathogenic/Likely pathogenic
- not provided; Renal tubular acidosis, distal, 3, with or without sensorineural h
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.83
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Renal tubular acidosis, distal, 3, with or without)
- EBI: Pathogenic (in DRTA3)
- UniProt: Pathogenic (in DRTA3)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)