R54H (p.Arg54His) variant of CDKN2A (Tumor suppressor ARF)
R54H (p.Arg54His) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
R54H (p.Arg54His) variant details
- p.Arg54His
- rs1587358254
- ClinGen CA373086826
- ClinVar RCV000022944
- ClinVar RCV002399333
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- AlphaMissense 0.17
- MetaLR 0.77
- MetaSVM 0.14
- SIFT 0.00
- EVE 0.54
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Novel and recurrent p14 mutations in Italian familial melanoma. (PMID 20132244)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)