E35V (p.Glu35Val) variant of COQ8A (Q8NI60)
E35V (p.Glu35Val) 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.
E35V (p.Glu35Val) variant details
- p.Glu35Val
- ExAC rs768978438
- gnomAD rs768978438
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.42
- CADD 23.90
- PolyPhen-2 0.08
- SIFT 0.04
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available