C28Y (p.Cys28Tyr) variant of CDH1 (Cadherin-1)
C28Y (p.Cys28Tyr) 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; not provided; Hereditary cancer-predi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
C28Y (p.Cys28Tyr) variant details
- p.Cys28Tyr
- rs2152114382
- ClinGen CA396451809
- ClinVar RCV003229736
- ClinVar RCV004765780
- Uncertain significance
- Hereditary diffuse gastric adenocarcinoma; not provided; Hereditary cancer-predi
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- AlphaMissense 0.88
- MetaLR 0.66
- MetaSVM 0.40
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.81
- ClinVar: Uncertain significance (Hereditary diffuse gastric adenocarcinoma; not provided; Heredit)
- 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)