E353K (p.Glu353Lys) variant of CDH1 (Cadherin-1)
E353K (p.Glu353Lys) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
E353K (p.Glu353Lys) variant details
- p.Glu353Lys
- rs876661091
- ClinGen CA10577540
- cosmic curated COSV55730
- ClinVar RCV000216189
- Likely pathogenic
- CDH1-related diffuse gastric and lobular breast cancer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.38
- MetaLR 0.26
- MetaSVM -0.55
- CADD 25.00
- PolyPhen-2 0.62
- SIFT 0.09
- ClinVar: Likely pathogenic (CDH1-related diffuse gastric and lobular breast cancer syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)