R6* (p.Arg6Ter) variant of ATP6V0A4 (Q9HBG4)
R6* (p.Arg6Ter) in ATP6V0A4 (Q9HBG4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R6* (p.Arg6Ter) variant details
- p.Arg6Ter
- rs769417807
- ClinGen CA4505275
- NCI-TCGA Cosmic COSV5947
- cosmic curated COSV59472
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.757
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)