D22N (p.Asp22Asn) variant of POLE (Q07864)
D22N (p.Asp22Asn) in POLE (Q07864) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Polymerase proofreading-related adenoma. The record also includes structural context.
D22N (p.Asp22Asn) variant details
- p.Asp22Asn
- Ensembl rs2136035020
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Polymerase proofreading-related adenoma
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Polymerase proofreading)
- UniProt: Uncertain significance
- Structural context available