V46G (p.Val46Gly) variant of CDKN2A (Tumor suppressor ARF)
V46G (p.Val46Gly) 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.
V46G (p.Val46Gly) variant details
- p.Val46Gly
- rs2489327109
- ClinGen CA373086874
- ClinVar RCV004522561
- 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)