Q16R (p.Gln16Arg) variant of CDH1 (Cadherin-1)
Q16R (p.Gln16Arg) 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 0.42 / 1. The record also includes published literature and structural context.
Q16R (p.Gln16Arg) variant details
- p.Gln16Arg
- rs775705607
- ClinGen CA396451423
- ClinVar RCV003040198
- ClinVar RCV004603277
- Uncertain significance
- Hereditary diffuse gastric adenocarcinoma; Hereditary cancer-predisposing syndro
- 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 diffuse gastric adenocarcinoma; Hereditary cancer-pre)
- 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)