E36A (p.Glu36Ala) variant of POLD1 (P28340)
E36A (p.Glu36Ala) in POLD1 (P28340) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Colorectal cancer, susceptibility to, 1. The record also includes published literature and structural context.
E36A (p.Glu36Ala) variant details
- p.Glu36Ala
- rs2513932899
- ClinGen CA406970152
- ClinVar RCV002424154
- ClinVar RCV005097940
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Colorectal cancer, susceptibility to, 1
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Colorectal cancer, susc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)