E24K (p.Glu24Lys) variant of CDC73 (Parafibromin)
E24K (p.Glu24Lys) in CDC73 (Parafibromin) 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 record also includes published literature and structural context.
E24K (p.Glu24Lys) variant details
- p.Glu24Lys
- rs2527281270
- ClinGen CA343972875
- ClinVar RCV002367354
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- 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)