L43L (p.Leu43Leu) variant of COQ8A (Q8NI60)
L43L (p.Leu43Leu) in COQ8A (Q8NI60) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L43L (p.Leu43Leu) variant details
- p.Leu43Leu
- rs753789581
- gnomAD 1-226961512-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.341
- CADD 9.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available