M25I (p.Met25Ile) variant of RUNX1 (Q01196)
M25I (p.Met25Ile) 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 hematologic cancer predisposition syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
M25I (p.Met25Ile) variant details
- p.Met25Ile
- rs1555899861
- ClinGen CA410204095
- ClinVar RCV000639528
- ClinVar RCV004773058
- Uncertain significance
- Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- AlphaMissense 0.74
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 0.94
- SIFT 0.01
- EVE 0.19
- ClinVar: Uncertain significance (Hereditary thrombocytopenia and hematologic cancer predispositio)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies. (PMID 33661592)