S5R (p.Ser5Arg) variant of POLE (Q07864)
S5R (p.Ser5Arg) in POLE (Q07864) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
S5R (p.Ser5Arg) variant details
- p.Ser5Arg
- rs1361332747
- ClinGen CA387373514
- ClinVar RCV003540762
- TOPMed rs1361332747
- Conflicting interpretations
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.01
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary cancer-predisposing syndrome)
- 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)