Q18* (p.Gln18Ter) variant of ATP6V0A4 (Q9HBG4)
Q18* (p.Gln18Ter) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
Q18* (p.Gln18Ter) variant details
- p.Gln18Ter
- rs1384393001
- ClinGen CA369380104
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10002
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.874
- CADD 40.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.00011)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)