G60R (p.Gly60Arg) variant of COQ8A (Q8NI60)
G60R (p.Gly60Arg) in COQ8A (Q8NI60) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G60R (p.Gly60Arg) variant details
- p.Gly60Arg
- ESP rs369252071
- ExAC rs369252071
- TOPMed rs369252071
- gnomAD rs369252071
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.22
- CADD 23.90
- PolyPhen-2 0.25
- SIFT 0.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available