G12E (p.Gly12Glu) variant of POLD1 (P28340)
G12E (p.Gly12Glu) in POLD1 (P28340) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Colorectal cancer, susceptibility to, 10; Hereditary cancer-predisposing syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
G12E (p.Gly12Glu) variant details
- p.Gly12Glu
- rs1389018181
- ClinGen CA406970015
- ClinVar RCV003640677
- ClinVar RCV005715023
- Conflicting interpretations
- Colorectal cancer, susceptibility to, 10; Hereditary cancer-predisposing syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.05
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (Colorectal cancer, susceptibility to, 10; Hereditary cancer-pred)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)