R213W (p.Arg213Trp) variant of COQ8A (Q8NI60)
R213W (p.Arg213Trp) in COQ8A (Q8NI60) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R213W (p.Arg213Trp) variant details
- p.Arg213Trp
- rs119468005
- ClinGen CA116400
- ClinVar RCV000003822
- ClinVar RCV005089154
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive ataxia due to ubiquinone deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.61
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive ataxia due to ubiquinone defic)
- EBI: Pathogenic (in COQ10D4)
- UniProt: Pathogenic (in COQ10D4)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. (PMID 18319072)
- Cited in: Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. (PMID 22036850)