Y514C (p.Tyr514Cys) variant of COQ8A (Q8NI60)
Y514C (p.Tyr514Cys) in COQ8A (Q8NI60) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive ataxia due to ubiquinone deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Y514C (p.Tyr514Cys) variant details
- p.Tyr514Cys
- rs119468008
- ClinGen CA116406
- ClinVar RCV000003828
- UniProt VAR 044405
- Pathogenic
- Autosomal recessive ataxia due to ubiquinone deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.39
- CADD 22.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Autosomal recessive ataxia due to ubiquinone deficiency)
- EBI: Pathogenic (in COQ10D4)
- UniProt: Pathogenic (in COQ10D4)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Cerebellar ataxia and coenzyme Q10 deficiency. (PMID 12682339)
- Cited in: ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. (PMID 18319074)