R17W (p.Arg17Trp) variant of POLD1 (P28340)
R17W (p.Arg17Trp) 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; not provided; Colorectal cancer, suscep. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R17W (p.Arg17Trp) variant details
- p.Arg17Trp
- rs570461545
- ClinGen CA9595595
- cosmic curated COSV70954
- ClinVar RCV000467060
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Colorectal cancer, suscep
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.10
- CADD 23.30
- PolyPhen-2 0.35
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Colorecta)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- 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)