R17L (p.Arg17Leu) variant of POLD1 (P28340)
R17L (p.Arg17Leu) 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 0.24 / 1. The record also includes published literature and structural context.
R17L (p.Arg17Leu) variant details
- p.Arg17Leu
- rs373637566
- ClinGen CA406970042
- ClinVar RCV000645865
- ClinVar RCV004760671
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Colorectal cancer, suscep
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- AlphaMissense 0.16
- MetaLR 0.03
- MetaSVM -1.08
- PolyPhen-2 0.03
- SIFT 0.21
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Colorecta)
- EBI: Likely benign
- UniProt: Likely benign
- 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)