R6W (p.Arg6Trp) variant of POLD1 (P28340)
R6W (p.Arg6Trp) 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; Colorectal cancer, susceptibility to, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R6W (p.Arg6Trp) variant details
- p.Arg6Trp
- rs55955638
- ClinGen CA9595582
- cosmic curated COSV10944
- ClinVar RCV000645857
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Colorectal cancer, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.08
- CADD 22.90
- PolyPhen-2 0.18
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Colorectal cancer, susc)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- 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)