V2E (p.Val2Glu) variant of CDKN2A (Tumor suppressor ARF)
V2E (p.Val2Glu) in CDKN2A (Tumor suppressor ARF) 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.
V2E (p.Val2Glu) variant details
- p.Val2Glu
- rs2489328462
- ClinGen CA373087129
- ClinVar RCV003306234
- 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)