G60V (p.Gly60Val) variant of COQ8A (Q8NI60)
G60V (p.Gly60Val) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G60V (p.Gly60Val) variant details
- p.Gly60Val
- gnomAD 1-226965001-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.27
- CADD 20.60
- PolyPhen-2 0.29
- SIFT 0.15
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available