R51K (p.Arg51Lys) variant of CDKN2A (Tumor suppressor ARF)
R51K (p.Arg51Lys) 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 0.72 / 1. The record also includes published literature and structural context.
R51K (p.Arg51Lys) variant details
- p.Arg51Lys
- rs1014358179
- cosmic curated COSV10606
- ClinGen CA373086847
- ClinVar RCV002402944
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- AlphaMissense 0.63
- MetaLR 0.76
- MetaSVM 0.79
- SIFT 0.00
- EVE 0.48
- 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)