S19Y (p.Ser19Tyr) variant of CDH1 (Cadherin-1)
S19Y (p.Ser19Tyr) 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 0.33 / 1. The record also includes published literature and structural context.
S19Y (p.Ser19Tyr) variant details
- p.Ser19Tyr
- rs1221633501
- ClinGen CA396451614
- ClinVar RCV001929000
- TOPMed rs1221633501
- Uncertain significance
- Hereditary diffuse gastric adenocarcinoma; Hereditary cancer-predisposing syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- AlphaMissense 0.09
- MetaLR 0.12
- MetaSVM -0.99
- PolyPhen-2 0.51
- SIFT 0.18
- MutPred 0.46
- ClinVar: Uncertain significance (Hereditary diffuse gastric adenocarcinoma; Hereditary cancer-pre)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)
- Cited in: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. (PMID 20065170)