C28* (p.Cys28Ter) variant of CDH1 (Cadherin-1)
C28* (p.Cys28Ter) 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 0.68 / 1. The record also includes published literature and structural context.
C28* (p.Cys28Ter) variant details
- p.Cys28Ter
- rs587780789
- ClinGen CA396451818
- ClinVar RCV002447702
- ClinVar RCV003336576
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.683
- AlphaMissense 0.87
- MetaLR 0.64
- MetaSVM 0.29
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.85
- 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)