A12S (p.Ala12Ser) variant of COQ8A (Q8NI60)
A12S (p.Ala12Ser) 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.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- ExAC rs770546950
- gnomAD rs770546950
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.05
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available