L11R (p.Leu11Arg) variant of CDH1 (Cadherin-1)
L11R (p.Leu11Arg) 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; Hereditary diffuse gastric adenocarcino. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L11R (p.Leu11Arg) variant details
- p.Leu11Arg
- rs1393903966
- ClinGen CA396451371
- ClinVar RCV000709392
- ClinVar RCV002458331
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary diffuse gastric adenocarcino
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- AlphaMissense 0.27
- MetaLR 0.21
- MetaSVM -0.84
- PolyPhen-2 0.97
- SIFT 0.03
- MutPred 0.74
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary diffuse gast)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)