W4* (p.Trp4Ter) variant of CDH1 (Cadherin-1)
W4* (p.Trp4Ter) in CDH1 (Cadherin-1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
W4* (p.Trp4Ter) variant details
- p.Trp4Ter
- rs1962423346
- ClinGen CA396451240
- ClinVar RCV001176687
- ClinVar RCV001713069
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.3
- AlphaMissense 0.04
- MetaLR 0.05
- MetaSVM -1.08
- PolyPhen-2 0.00
- SIFT 0.51
- MutPred 0.39
- 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)