T19N (p.Thr19Asn) variant of COQ8A (Q8NI60)
T19N (p.Thr19Asn) in COQ8A (Q8NI60) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
T19N (p.Thr19Asn) variant details
- p.Thr19Asn
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10082
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.25
- CADD 22.60
- PolyPhen-2 0.09
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available