P207L (p.Pro207Leu) variant of COQ8A (Q8NI60)
P207L (p.Pro207Leu) in COQ8A (Q8NI60) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive ataxia due to ubiquinone deficiency. The record also includes structural context.
P207L (p.Pro207Leu) variant details
- p.Pro207Leu
- TOPMed rs1476413615
- Likely pathogenic
- Autosomal recessive ataxia due to ubiquinone deficiency
- Missense
- ClinVar: Likely pathogenic (Autosomal recessive ataxia due to ubiquinone deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available