F68L (p.Phe68Leu) variant of COQ8A (Q8NI60)
F68L (p.Phe68Leu) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
F68L (p.Phe68Leu) variant details
- p.Phe68Leu
- gnomAD 1-226965026-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0678
- REVEL 0.07
- CADD 1.66
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available