S5P (p.Ser5Pro) variant of CHEK2 (O96017)
S5P (p.Ser5Pro) 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 0.44 / 1. The record also includes published literature and structural context.
S5P (p.Ser5Pro) variant details
- p.Ser5Pro
- rs1601854328
- ClinGen CA411092109
- ClinVar RCV001011376
- Ensembl rs1601854328
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- AlphaMissense 0.06
- MetaLR 0.38
- MetaSVM -0.68
- PolyPhen-2 0.00
- SIFT 0.92
- MutPred 0.07
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)