R19P (p.Arg19Pro) variant of CDKN2A (Tumor suppressor ARF)
R19P (p.Arg19Pro) 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 0.49 / 1. The record also includes published literature and structural context.
R19P (p.Arg19Pro) variant details
- p.Arg19Pro
- rs748616717
- ClinGen CA373087030
- cosmic curated COSV10527
- ClinVar RCV002347559
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- AlphaMissense 0.38
- MetaLR 0.42
- MetaSVM -0.59
- SIFT 0.02
- EVE 0.64
- 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)