R449H (p.Arg449His) variant of ATP6V0A4 (Q9HBG4)
R449H (p.Arg449His) in ATP6V0A4 (Q9HBG4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive distal renal tubular acidosis; ATP6V0A4-related disorder; no. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R449H (p.Arg449His) variant details
- p.Arg449His
- rs1443883930
- ClinGen CA369371085
- NCI-TCGA Cosmic COSV5947
- cosmic curated COSV59477
- Pathogenic/Likely pathogenic
- Autosomal recessive distal renal tubular acidosis; ATP6V0A4-related disorder; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.81
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive distal renal tubular acidosis; ATP6V0A4-rela)
- EBI: Pathogenic (in DRTA3)
- UniProt: Pathogenic (in DRTA3)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for… (PMID 12414817)
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)