T46M (p.Thr46Met) variant of COQ8A (Q8NI60)
T46M (p.Thr46Met) in COQ8A (Q8NI60) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
T46M (p.Thr46Met) variant details
- p.Thr46Met
- rs187123516
- ClinGen CA1424935
- cosmic curated COSV10082
- ClinVar RCV001932862
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.24
- CADD 23.50
- PolyPhen-2 0.64
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:DAI population (allele frequency 0.056)
- Structural context available