C22* (p.Cys22Ter) variant of CDH1 (Cadherin-1)
C22* (p.Cys22Ter) 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 0.43 / 1. The record also includes published literature and structural context.
C22* (p.Cys22Ter) variant details
- p.Cys22Ter
- rs865838543
- ClinGen CA283274268
- ClinVar RCV001951123
- gnomAD rs865838543
- Pathogenic
- Stop Gained
- 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
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)
- Cited in: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. (PMID 20065170)