H24Q (p.His24Gln) variant of CEBPA (P49715)
H24Q (p.His24Gln) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
H24Q (p.His24Gln) variant details
- p.His24Gln
- rs1555742309
- ClinGen CA405275736
- ClinVar RCV000631434
- TOPMed rs1555742309
- Uncertain significance
- Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.06
- MetaLR 0.07
- MetaSVM -1.03
- CADD 22.90
- PolyPhen-2 0.24
- SIFT 0.37
- ClinVar: Uncertain significance (Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- 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)