R142I (p.Arg142Ile) variant of RUNX1 (Q01196)
R142I (p.Arg142Ile) in RUNX1 (Q01196) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary thrombocytopenia and hematological cancer predisposition syndrome ass. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
R142I (p.Arg142Ile) variant details
- p.Arg142Ile
- rs2057883934
- ClinGen CA410202469
- ClinVar RCV001078212
- Ensembl rs2057883934
- Likely pathogenic
- Hereditary thrombocytopenia and hematological cancer predisposition syndrome ass
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 0.92
- SIFT 0.00
- EVE 0.92
- ClinVar: Likely pathogenic (Hereditary thrombocytopenia and hematological cancer predisposit)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies. (PMID 33661592)