G52G (p.Gly52Gly) variant of COQ8A (Q8NI60)
G52G (p.Gly52Gly) in COQ8A (Q8NI60) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
G52G (p.Gly52Gly) variant details
- p.Gly52Gly
- gnomAD 1-226961541-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.19
- CADD 5.41
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available