G60D (p.Gly60Asp) variant of COQ8A (Q8NI60)
G60D (p.Gly60Asp) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
G60D (p.Gly60Asp) variant details
- p.Gly60Asp
- TOPMed rs754837883
- gnomAD rs754837883
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.11
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available