G32R (p.Gly32Arg) variant of CDKN2A (Tumor suppressor ARF)
G32R (p.Gly32Arg) 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 Familial melanoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
G32R (p.Gly32Arg) variant details
- p.Gly32Arg
- rs879254043
- ClinGen CA10584303
- ClinVar RCV000237047
- ClinVar RCV000638972
- Uncertain significance
- Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- CADD 9.99
- ClinVar: Uncertain significance (Familial melanoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00012)
- 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)