E830G (p.Glu830Gly) variant of POLE (Q07864)
E830G (p.Glu830Gly) in POLE (Q07864) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Myoepithelial tumor. The record also includes structural context.
E830G (p.Glu830Gly) variant details
- p.Glu830Gly
- rs2542066600
- ClinGen CA387396589
- ClinVar RCV002463907
- Pathogenic
- Myoepithelial tumor
- Missense
- ClinVar: Pathogenic (Myoepithelial tumor)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available