T19I (p.Thr19Ile) variant of COQ8A (Q8NI60)
T19I (p.Thr19Ile) in COQ8A (Q8NI60) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
T19I (p.Thr19Ile) variant details
- p.Thr19Ile
- rs774521966
- ClinGen CA1424914
- ClinVar RCV002580166
- ExAC rs774521966
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.38
- CADD 23.10
- PolyPhen-2 0.30
- SIFT 0.01
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00058)
- Structural context available