T19S (p.Thr19Ser) variant of COQ8A (Q8NI60)
T19S (p.Thr19Ser) in COQ8A (Q8NI60) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
T19S (p.Thr19Ser) variant details
- p.Thr19Ser
- ExAC rs774521966
- TOPMed rs774521966
- gnomAD rs774521966
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.12
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available