R139Q (p.Arg139Gln) variant of RUNX1 (Q01196)
R139Q (p.Arg139Gln) in RUNX1 (Q01196) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary thrombocytopenia and hematologic cancer predisposition syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes population frequency data, published literature, and structural context.
R139Q (p.Arg139Gln) variant details
- p.Arg139Gln
- rs1060499616
- ClinGen CA16616941
- NCI-TCGA Cosmic COSV5586
- Pathogenic
- Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (Hereditary thrombocytopenia and hematologic cancer predispositio)
- EBI: Pathogenic (in FPDMM)
- UniProt: Pathogenic (in FPDMM)
- Population evidence available
- Structural context available
- Cited in: Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. (PMID 10508512)
- Cited in: RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies. (PMID 33661592)