D5H (p.Asp5His) variant of CEBPA (P49715)
D5H (p.Asp5His) 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 0.29 / 1. The record also includes published literature and structural context.
D5H (p.Asp5His) variant details
- p.Asp5His
- rs2145265106
- ClinGen CA405275868
- ClinVar RCV001969995
- Ensembl rs2145265106
- Uncertain significance
- Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- AlphaMissense 0.71
- MetaLR 0.04
- MetaSVM -1.05
- PolyPhen-2 0.85
- SIFT 0.00
- MutPred 0.22
- 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)