R301Q (p.Arg301Gln) variant of COQ8A (Q8NI60)
R301Q (p.Arg301Gln) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R301Q (p.Arg301Gln) variant details
- p.Arg301Gln
- rs1243721108
- ClinGen CA345052335
- ClinVar RCV003143777
- ClinVar RCV003661014
- Likely pathogenic
- not provided; Autosomal recessive ataxia due to ubiquinone deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.46
- CADD 24.20
- PolyPhen-2 0.15
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Autosomal recessive ataxia due to ubiquinone defic)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Primary Coenzyme Q(10) Deficiency Overview. (PMID 28125198)