F6I (p.Phe6Ile) variant of CEBPA (P49715)
F6I (p.Phe6Ile) in CEBPA (P49715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Acute myeloid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
F6I (p.Phe6Ile) variant details
- p.Phe6Ile
- rs1600024682
- ClinGen CA405275861
- ClinVar RCV000820468
- Ensembl rs1600024682
- Uncertain significance
- Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- AlphaMissense 0.45
- MetaLR 0.07
- MetaSVM -1.02
- PolyPhen-2 0.65
- SIFT 0.00
- MutPred 0.24
- ClinVar: Uncertain significance (Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: CEBPA-Associated Familial Acute Myeloid Leukemia (AML). (PMID 20963938)
- Cited in: NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. (PMID 22138009)