D42G (p.Asp42Gly) variant of POLE (Q07864)
D42G (p.Asp42Gly) 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.
D42G (p.Asp42Gly) variant details
- p.Asp42Gly
- ExAC rs749886101
- gnomAD rs749886101
- 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