G74R (p.Gly74Arg) variant of COQ8A (Q8NI60)
G74R (p.Gly74Arg) 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 0.24 / 1. The record also includes population frequency data and structural context.
G74R (p.Gly74Arg) variant details
- p.Gly74Arg
- TOPMed rs778948697
- gnomAD rs778948697
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.14
- CADD 13.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available