L15Q (p.Leu15Gln) variant of CDH1 (Cadherin-1)
L15Q (p.Leu15Gln) 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 diffuse gastric adenocarcinoma; Hereditary cancer-predisposing syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L15Q (p.Leu15Gln) variant details
- p.Leu15Gln
- rs370614162
- ClinGen CA283273479
- ClinVar RCV000699278
- ClinVar RCV002257942
- Uncertain significance
- Hereditary diffuse gastric adenocarcinoma; Hereditary cancer-predisposing syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- AlphaMissense 0.21
- MetaLR 0.28
- MetaSVM -0.77
- PolyPhen-2 0.98
- SIFT 0.01
- MutPred 0.75
- ClinVar: Uncertain significance (Hereditary diffuse gastric adenocarcinoma; Hereditary cancer-pre)
- 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)