K276R (p.Lys276Arg) variant of COQ8A (Q8NI60)
K276R (p.Lys276Arg) in COQ8A (Q8NI60) is a missense change. Clinical records from ClinVar 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 0.81 / 1. The record also includes population frequency data and structural context.
K276R (p.Lys276Arg) variant details
- p.Lys276Arg
- TOPMed rs1223030341
- gnomAD rs1223030341
- Pathogenic
- Autosomal recessive ataxia due to ubiquinone deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.92
- CADD 28.50
- ClinVar: Pathogenic (Autosomal recessive ataxia due to ubiquinone deficiency)
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available