I27V (p.Ile27Val) variant of CDKN2A (Tumor suppressor ARF)
I27V (p.Ile27Val) 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 0.37 / 1. The record also includes published literature and structural context.
I27V (p.Ile27Val) variant details
- p.Ile27Val
- rs1057517575
- ClinGen CA373086986
- ClinVar RCV002419133
- TOPMed rs1057517575
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- AlphaMissense 0.47
- MetaLR 0.19
- MetaSVM -0.96
- SIFT 0.24
- EVE 0.31
- 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)