K167I (p.Lys167Ile) variant of RUNX1 (Q01196)
K167I (p.Lys167Ile) in RUNX1 (Q01196) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary thrombocytopenia and hematologic cancer predisposition syndrome. The record also includes structural context.
K167I (p.Lys167Ile) variant details
- p.Lys167Ile
- Ensembl rs2146235183
- Likely pathogenic
- Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- Missense
- ClinVar: Likely pathogenic (Hereditary thrombocytopenia and hematologic cancer predispositio)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available