S52N (p.Ser52Asn) variant of CDKN2A (Tumor suppressor ARF)
S52N (p.Ser52Asn) 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; Melanoma and neural system tumor syndro. The record also includes published literature and structural context.
S52N (p.Ser52Asn) variant details
- p.Ser52Asn
- rs2489326979
- ClinVar RCV004575555
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Melanoma and neural system tumor syndro
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Melanoma and neural sys)
- 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)
- Cited in: Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the… (PMID 31672839)