A107P (p.Ala107Pro) variant of RUNX1 (Q01196)
A107P (p.Ala107Pro) 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 0.96 / 1. The record also includes published literature and structural context.
A107P (p.Ala107Pro) variant details
- p.Ala107Pro
- rs74315451
- Civic 807
- ClinGen CA248623
- NCI-TCGA Cosmic COSV5587
- Pathogenic
- Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (Hereditary thrombocytopenia and hematologic cancer predispositio)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute… (PMID 12060124)
- Cited in: RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies. (PMID 33661592)