Q112* (p.Gln112Ter) variant of ATP6V0A4 (Q9HBG4)
Q112* (p.Gln112Ter) 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 0.68 / 1. The record also includes population frequency data and structural context.
Q112* (p.Gln112Ter) variant details
- p.Gln112Ter
- rs779869631
- ClinGen CA4505156
- ClinVar RCV000287838
- ExAC rs779869631
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available