A28V (p.Ala28Val) variant of RUNX1 (Q01196)
A28V (p.Ala28Val) 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 record also includes population frequency data and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- gnomAD rs1473182680
- Uncertain significance
- Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary thrombocytopenia and hematologic cancer predispositio)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available