P37A (p.Pro37Ala) variant of CDKN2A (Tumor suppressor ARF)
P37A (p.Pro37Ala) 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 0.35 / 1. The record also includes published literature.
P37A (p.Pro37Ala) variant details
- p.Pro37Ala
- rs2131148448
- ClinGen CA373086927
- ClinVar RCV002258451
- Ensembl rs2131148448
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- AlphaMissense 0.07
- MetaLR 0.22
- MetaSVM -0.87
- SIFT 0.08
- EVE 0.34
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)