L55L (p.Leu55Leu) variant of COQ8A (Q8NI60)
L55L (p.Leu55Leu) in COQ8A (Q8NI60) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
L55L (p.Leu55Leu) variant details
- p.Leu55Leu
- gnomAD 1-226961550-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0872
- CADD 0.92
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available