A28E (p.Ala28Glu) variant of RUNX1 (Q01196)
A28E (p.Ala28Glu) in RUNX1 (Q01196) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary thrombocytopenia and hematologic cancer predisposition syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
A28E (p.Ala28Glu) variant details
- p.Ala28Glu
- rs1473182680
- ClinGen CA410204054
- cosmic curated COSV10439
- ClinVar RCV001143085
- Uncertain significance
- Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- AlphaMissense 0.47
- MetaLR 0.95
- MetaSVM 1.16
- PolyPhen-2 0.99
- SIFT 0.04
- EVE 0.25
- ClinVar: Uncertain significance (Hereditary thrombocytopenia and hematologic cancer predispositio)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)