S19T (p.Ser19Thr) variant of CHEK2 (O96017)
S19T (p.Ser19Thr) 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 0.56 / 1. The record also includes published literature and structural context.
S19T (p.Ser19Thr) variant details
- p.Ser19Thr
- rs2146154587
- ClinGen CA411091838
- ClinVar RCV001805247
- Ensembl rs2146154587
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- AlphaMissense 0.07
- MetaLR 0.81
- MetaSVM 0.15
- PolyPhen-2 0.00
- SIFT 0.03
- MutPred 0.16
- 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)