S5W (p.Ser5Trp) variant of CHEK2 (O96017)
S5W (p.Ser5Trp) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S5W (p.Ser5Trp) variant details
- p.Ser5Trp
- rs201084748
- ClinGen CA411092100
- ClinVar RCV000575010
- 1000Genomes rs201084748
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- AlphaMissense 0.19
- MetaLR 0.65
- MetaSVM -0.07
- PolyPhen-2 0.82
- SIFT 0.01
- MutPred 0.16
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)