L36V (p.Leu36Val) variant of COQ8A (Q8NI60)
L36V (p.Leu36Val) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
L36V (p.Leu36Val) variant details
- p.Leu36Val
- ExAC rs774811481
- gnomAD rs774811481
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.11
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available