L18M (p.Leu18Met) variant of COQ8A (Q8NI60)
L18M (p.Leu18Met) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L18M (p.Leu18Met) variant details
- p.Leu18Met
- gnomAD rs538203578
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.37
- CADD 24.20
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available