G20R (p.Gly20Arg) variant of POLD1 (P28340)
G20R (p.Gly20Arg) 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 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
G20R (p.Gly20Arg) variant details
- p.Gly20Arg
- rs1601188789
- ClinGen CA406970056
- ClinVar RCV000801314
- ClinVar RCV005392410
- Conflicting interpretations
- Colorectal cancer, susceptibility to, 10; Hereditary cancer-predisposing syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.0897
- REVEL 0.01
- CADD 5.83
- PolyPhen-2 0.02
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (Colorectal cancer, susceptibility to, 10; Hereditary cancer-pred)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)