A12V (p.Ala12Val) variant of COQ8A (Q8NI60)
A12V (p.Ala12Val) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- ExAC rs200052870
- TOPMed rs200052870
- gnomAD rs200052870
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.07
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.77
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available