D171Y (p.Asp171Tyr) variant of RUNX1 (Q01196)
D171Y (p.Asp171Tyr) 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 published literature and structural context.
D171Y (p.Asp171Tyr) variant details
- p.Asp171Tyr
- rs2146234838
- ClinGen CA410207975
- ClinVar RCV003448648
- ClinVar RCV005100107
- Pathogenic
- Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.953
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic (Hereditary thrombocytopenia and hematologic cancer predispositio)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies. (PMID 33661592)