M1I (p.Met1Ile) variant of CDH1 (Cadherin-1)
M1I (p.Met1Ile) 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 0.31 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs878854691
- ClinGen CA10583399
- ClinVar RCV000230267
- ClinVar RCV000570172
- Uncertain significance
- CDH1-related diffuse gastric and lobular breast cancer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- MetaLR 0.12
- MetaSVM -0.95
- PolyPhen-2 0.13
- SIFT 0.00
- MutPred 1.00
- ClinVar: Uncertain significance (Hereditary diffuse gastric adenocarcinoma)
- 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)