R34G (p.Arg34Gly) variant of POLE (Q07864)
R34G (p.Arg34Gly) 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.
R34G (p.Arg34Gly) variant details
- p.Arg34Gly
- ExAC rs771051323
- TOPMed rs771051323
- gnomAD rs771051323
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available