Q16L (p.Gln16Leu) variant of CDH1 (Cadherin-1)
Q16L (p.Gln16Leu) 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 0.42 / 1. The record also includes published literature and structural context.
Q16L (p.Gln16Leu) variant details
- p.Gln16Leu
- rs775705607
- ClinGen CA396451425
- ClinVar RCV000772459
- ClinVar RCV001219565
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary diffuse gastric adenocarcino
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- AlphaMissense 0.17
- MetaLR 0.30
- MetaSVM -0.67
- PolyPhen-2 0.98
- SIFT 0.12
- MutPred 0.47
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary diffuse gast)
- 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)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)