F31L (p.Phe31Leu) variant of CEBPA (P49715)
F31L (p.Phe31Leu) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
F31L (p.Phe31Leu) variant details
- p.Phe31Leu
- rs2145264560
- NCI-TCGA Cosmic COSV5719
- ClinGen CA405275688
- Uncertain significance
- Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.05
- AlphaMissense 0.21
- MetaLR 0.13
- MetaSVM -0.93
- CADD 23.20
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)