M1R (p.Met1Arg) variant of CDH1 (Cadherin-1)
M1R (p.Met1Arg) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.35 / 1. The record also includes published literature and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs1555509623
- ClinGen CA396451182
- ClinVar RCV000639275
- ClinVar RCV001525446
- Pathogenic
- CDH1-related diffuse gastric and lobular breast cancer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- MetaLR 0.15
- MetaSVM -0.80
- PolyPhen-2 0.84
- SIFT 0.00
- MutPred 0.93
- ClinVar: Pathogenic (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)