L50P (p.Leu50Pro) variant of CDKN2A (Tumor suppressor ARF)
L50P (p.Leu50Pro) 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 0.36 / 1. The record also includes published literature and structural context.
L50P (p.Leu50Pro) variant details
- p.Leu50Pro
- rs1554659181
- ClinGen CA373086852
- ClinVar RCV002389883
- cosmic curated COSV10652
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- AlphaMissense 0.26
- MetaLR 0.22
- MetaSVM -0.85
- SIFT 0.04
- EVE 0.21
- 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)