M25T (p.Met25Thr) variant of RUNX1 (Q01196)
M25T (p.Met25Thr) 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 0.49 / 1. The record also includes population frequency data and structural context.
M25T (p.Met25Thr) variant details
- p.Met25Thr
- ESP rs200431130
- ExAC rs200431130
- TOPMed rs200431130
- gnomAD rs200431130
- Uncertain significance
- Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- MetaLR 0.92
- MetaSVM 0.91
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (Hereditary thrombocytopenia and hematologic cancer predispositio)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available