L43Q (p.Leu43Gln) variant of COQ8A (Q8NI60)
L43Q (p.Leu43Gln) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
L43Q (p.Leu43Gln) variant details
- p.Leu43Gln
- ExAC rs754971776
- TOPMed rs754971776
- gnomAD rs754971776
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.47
- CADD 25.30
- PolyPhen-2 0.46
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available