T46K (p.Thr46Lys) variant of COQ8A (Q8NI60)
T46K (p.Thr46Lys) in COQ8A (Q8NI60) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
T46K (p.Thr46Lys) variant details
- p.Thr46Lys
- 1000Genomes rs187123516
- ExAC rs187123516
- TOPMed rs187123516
- gnomAD rs187123516
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.24
- CADD 22.20
- PolyPhen-2 0.10
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00025)
- Structural context available