E24* (p.Glu24Ter) variant of CDH1 (Cadherin-1)
E24* (p.Glu24Ter) 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 0.38 / 1. The record also includes published literature and structural context.
E24* (p.Glu24Ter) variant details
- p.Glu24Ter
- rs121964876
- ClinGen CA280997
- cosmic curated COSV55730
- ClinVar RCV000013027
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.378
- AlphaMissense 0.10
- MetaLR 0.25
- MetaSVM -0.80
- PolyPhen-2 0.85
- SIFT 0.23
- MutPred 0.62
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer. (PMID 10477433)
- Cited in: E-cadherin mutation-based genetic counseling and hereditary diffuse gastric carcinoma. (PMID 11104024)