T46A (p.Thr46Ala) variant of COQ8A (Q8NI60)
T46A (p.Thr46Ala) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
T46A (p.Thr46Ala) variant details
- p.Thr46Ala
- ExAC rs765033818
- gnomAD rs765033818
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.08
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available