G74C (p.Gly74Cys) variant of COQ8A (Q8NI60)
G74C (p.Gly74Cys) 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 0.29 / 1. The record also includes population frequency data and structural context.
G74C (p.Gly74Cys) variant details
- p.Gly74Cys
- TOPMed rs778948697
- gnomAD rs778948697
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.18
- CADD 20.90
- PolyPhen-2 0.46
- SIFT 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available