R299W (p.Arg299Trp) variant of COQ8A (Q8NI60)
R299W (p.Arg299Trp) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R299W (p.Arg299Trp) variant details
- p.Arg299Trp
- rs201908721
- ClinGen CA1425208
- cosmic curated COSV64656
- ClinVar RCV000413531
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive ataxia due to ubiquinone deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.78
- CADD 26.90
- PolyPhen-2 0.96
- 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 Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available
- Cited in: Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. (PMID 22036850)
- Cited in: Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis. (PMID 25498144)