D68E (p.Asp68Glu) variant of CDKN2A (Tumor suppressor ARF)
D68E (p.Asp68Glu) 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 0.54 / 1. The record also includes published literature.
D68E (p.Asp68Glu) variant details
- p.Asp68Glu
- rs1587332544
- ClinGen CA373086436
- ClinVar RCV001012461
- Ensembl rs1587332544
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- AlphaMissense 0.68
- MetaLR 0.57
- MetaSVM -0.02
- PolyPhen-2 0.96
- SIFT 0.03
- MutPred 0.36
- 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)