E26Q (p.Glu26Gln) variant of CDH1 (Cadherin-1)
E26Q (p.Glu26Gln) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of CDH1-related diffuse gastric and lobular breast cancer syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
E26Q (p.Glu26Gln) variant details
- p.Glu26Gln
- rs786201058
- ClinGen CA10580068
- ClinVar RCV000223374
- ClinVar RCV000410130
- Uncertain significance
- CDH1-related diffuse gastric and lobular breast cancer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- AlphaMissense 0.08
- MetaLR 0.15
- MetaSVM -0.94
- PolyPhen-2 0.24
- SIFT 0.17
- MutPred 0.52
- ClinVar: Uncertain significance (CDH1-related diffuse gastric and lobular breast cancer syndrome)
- 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)