C22W (p.Cys22Trp) variant of CDH1 (Cadherin-1)
C22W (p.Cys22Trp) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Hereditary diffuse gastric adenocarcino. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
C22W (p.Cys22Trp) variant details
- p.Cys22Trp
- rs865838543
- ClinGen CA396451679
- ClinVar RCV001805299
- ClinVar RCV003772237
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary diffuse gastric adenocarcino
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- AlphaMissense 0.34
- MetaLR 0.26
- MetaSVM -0.70
- PolyPhen-2 1.00
- SIFT 0.03
- MutPred 0.36
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary diffuse gast)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)