Q59* (p.Gln59Ter) variant of COQ8A (Q8NI60)
Q59* (p.Gln59Ter) in COQ8A (Q8NI60) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
Q59* (p.Gln59Ter) variant details
- p.Gln59Ter
- rs1572040505
- ClinGen CA345049797
- ClinVar RCV000995683
- Ensembl rs1572040505
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.777
- CADD 41.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Primary Coenzyme Q(10) Deficiency Overview. (PMID 28125198)