D33E (p.Asp33Glu) variant of CDH1 (Cadherin-1)
D33E (p.Asp33Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
D33E (p.Asp33Glu) variant details
- p.Asp33Glu
- rs1597838607
- Ensembl rs1597838607
- ClinGen CA396451935
- ClinVar RCV001019968
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- AlphaMissense 0.13
- MetaLR 0.03
- MetaSVM -0.99
- PolyPhen-2 0.00
- SIFT 0.87
- MutPred 0.30
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)