D16E (p.Asp16Glu) variant of POLE (Q07864)
D16E (p.Asp16Glu) in POLE (Q07864) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes structural context.
D16E (p.Asp16Glu) variant details
- p.Asp16Glu
- TOPMed rs1057523833
- gnomAD rs1057523833
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available