L11V (p.Leu11Val) variant of CDH1 (Cadherin-1)
L11V (p.Leu11Val) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not specified. The record also includes published literature and structural context.
L11V (p.Leu11Val) variant details
- p.Leu11Val
- rs2152113973
- ClinGen CA396451364
- ClinVar RCV002322953
- ClinVar RCV006454207
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not specified
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)