L277P (p.Leu277Pro) variant of COQ8A (Q8NI60)
L277P (p.Leu277Pro) in COQ8A (Q8NI60) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Autosomal recessive ataxia due to ubiquinone deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
L277P (p.Leu277Pro) variant details
- p.Leu277Pro
- rs781518112
- ClinGen CA1425169
- ClinVar RCV000423719
- ClinVar RCV000515534
- Likely pathogenic
- not provided; Autosomal recessive ataxia due to ubiquinone deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.93
- CADD 31.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Autosomal recessive ataxia due to ubiquinone defic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Primary Coenzyme Q(10) Deficiency Overview. (PMID 28125198)