L49P (p.Leu49Pro) variant of CDKN2A (Tumor suppressor ARF)
L49P (p.Leu49Pro) 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; not provided. The record also includes published literature and structural context.
L49P (p.Leu49Pro) variant details
- p.Leu49Pro
- rs2489327023
- ClinGen CA373086856
- ClinVar RCV002396910
- ClinVar RCV004697224
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- 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)