E26* (p.Glu26Ter) variant of CDH1 (Cadherin-1)
E26* (p.Glu26Ter) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
E26* (p.Glu26Ter) variant details
- p.Glu26Ter
- rs786201058
- ClinGen CA186314
- cosmic curated COSV55736
- ClinVar RCV000162463
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.644
- AlphaMissense 0.08
- MetaLR 0.15
- MetaSVM -0.94
- CADD 37.00
- PolyPhen-2 0.24
- SIFT 0.17
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- 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)