R13H (p.Arg13His) variant of CDKN2A (Tumor suppressor ARF)
R13H (p.Arg13His) 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 Melanoma and neural system tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
R13H (p.Arg13His) variant details
- p.Arg13His
- rs1820535235
- cosmic curated COSV10084
- ClinVar RCV004575560
- TOPMed rs1820535235
- Uncertain significance
- Melanoma and neural system tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- AlphaMissense 0.35
- MetaLR 0.69
- MetaSVM -0.11
- SIFT 0.00
- EVE 0.57
- ClinVar: Uncertain significance (Melanoma and neural system tumor 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)
- Cited in: Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the… (PMID 31672839)