P9S (p.Pro9Ser) variant of POLD1 (P28340)
P9S (p.Pro9Ser) in POLD1 (P28340) is a missense change. Clinical records from ClinVar, EBI, 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.
P9S (p.Pro9Ser) variant details
- p.Pro9Ser
- rs2513932031
- ClinGen CA406969998
- ClinVar RCV003641687
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Colorectal cancer, susceptibility to, 1
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Colorectal cancer, susc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available