V52E (p.Val52Glu) variant of RUNX1 (Q01196)
V52E (p.Val52Glu) 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 hematological cancer predisposition syndrome ass. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
V52E (p.Val52Glu) variant details
- p.Val52Glu
- rs1601529045
- ClinGen CA410203832
- ClinVar RCV001066864
- ClinVar RCV004570281
- Uncertain significance
- Hereditary thrombocytopenia and hematological cancer predisposition syndrome ass
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- AlphaMissense 0.21
- MetaLR 0.95
- MetaSVM 1.04
- PolyPhen-2 0.35
- SIFT 0.12
- EVE 0.23
- ClinVar: Uncertain significance (Hereditary thrombocytopenia and hematological cancer predisposit)
- 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)