R5W (p.Arg5Trp) variant of POLD1 (P28340)
R5W (p.Arg5Trp) 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 specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R5W (p.Arg5Trp) variant details
- p.Arg5Trp
- rs9282830
- ClinGen CA9595580
- ClinVar RCV000732271
- ClinVar RCV001079499
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.25
- CADD 26.30
- PolyPhen-2 0.64
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not specified; not prov)
- EBI: Likely benign (in dbSNP:rs9282830)
- UniProt: Likely benign (in dbSNP:rs9282830)
- 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)