M1V (p.Met1Val) variant of CDH1 (Cadherin-1)
M1V (p.Met1Val) 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 record also includes variant effect predictions, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1555509622
- ClinGen CA396451176
- ClinVar RCV000639240
- ClinVar RCV002420724
- Uncertain significance
- CDH1-related diffuse gastric and lobular breast cancer syndrome
- Missense
- MetaLR 0.10
- MetaSVM -0.95
- PolyPhen-2 0.13
- SIFT 0.00
- MutPred 0.68
- 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)