A44S (p.Ala44Ser) variant of CDKN2A (Tumor suppressor ARF)
A44S (p.Ala44Ser) 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.
A44S (p.Ala44Ser) variant details
- p.Ala44Ser
- rs2489327173
- ClinGen CA373086887
- ClinVar RCV002385419
- 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)