R271C (p.Arg271Cys) variant of COQ8A (Q8NI60)
R271C (p.Arg271Cys) in COQ8A (Q8NI60) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive ataxia due to ubiquinone deficiency; not provided; See cases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R271C (p.Arg271Cys) variant details
- p.Arg271Cys
- rs145034527
- ClinGen CA1425162
- cosmic curated COSV64657
- ClinVar RCV000416392
- Pathogenic/Likely pathogenic
- Autosomal recessive ataxia due to ubiquinone deficiency; not provided; See cases
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.79
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive ataxia due to ubiquinone deficiency; not pro)
- EBI: Pathogenic (in COQ10D4)
- UniProt: Pathogenic (in COQ10D4)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00028)
- Structural context available
- Cited in: Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. (PMID 22036850)
- Cited in: Primary Coenzyme Q(10) Deficiency Overview. (PMID 28125198)