P37L (p.Pro37Leu) variant of CDKN2A (Tumor suppressor ARF)
P37L (p.Pro37Leu) 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 population frequency data and published literature.
P37L (p.Pro37Leu) variant details
- p.Pro37Leu
- rs1361441265
- ClinGen CA373086923
- ClinVar RCV004522558
- gnomAD rs1361441265
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- AlphaMissense 0.17
- MetaLR 0.30
- MetaSVM -0.77
- CADD 19.80
- SIFT 0.01
- EVE 0.25
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)