E24D (p.Glu24Asp) variant of CDH1 (Cadherin-1)
E24D (p.Glu24Asp) 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 0.30 / 1. The record also includes published literature and structural context.
E24D (p.Glu24Asp) variant details
- p.Glu24Asp
- rs2152114363
- Ensembl rs2152114363
- ClinGen CA396451740
- ClinVar RCV003344138
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- AlphaMissense 0.12
- MetaLR 0.09
- MetaSVM -1.07
- PolyPhen-2 0.01
- SIFT 0.41
- MutPred 0.68
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- 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)