E24K (p.Glu24Lys) variant of CDH1 (Cadherin-1)
E24K (p.Glu24Lys) 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 0.38 / 1. The record also includes published literature and structural context.
E24K (p.Glu24Lys) variant details
- p.Glu24Lys
- rs121964876
- ClinGen CA396451711
- ClinVar RCV001026038
- Ensembl rs121964876
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- AlphaMissense 0.10
- MetaLR 0.25
- MetaSVM -0.80
- PolyPhen-2 0.85
- SIFT 0.23
- MutPred 0.62
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)