H29Y (p.His29Tyr) variant of CDH1 (Cadherin-1)
H29Y (p.His29Tyr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
H29Y (p.His29Tyr) variant details
- p.His29Tyr
- rs1254266267
- ClinGen CA396451833
- ClinVar RCV000698861
- TOPMed rs1254266267
- Uncertain significance
- Hereditary diffuse gastric adenocarcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- AlphaMissense 0.08
- MetaLR 0.07
- MetaSVM -0.99
- PolyPhen-2 0.26
- SIFT 0.02
- MutPred 0.45
- ClinVar: Uncertain significance (Hereditary diffuse gastric adenocarcinoma)
- 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)