D26H (p.Asp26His) variant of POLD1 (P28340)
D26H (p.Asp26His) in POLD1 (P28340) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Colorectal cancer, susceptibility to, 1. The record also includes structural context.
D26H (p.Asp26His) variant details
- p.Asp26His
- ExAC rs775421347
- gnomAD rs775421347
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Colorectal cancer, susceptibility to, 1
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Colorectal cancer, susc)
- UniProt: Conflicting interpretations
- Structural context available