K83Q (p.Lys83Gln) variant of RUNX1 (Q01196)
K83Q (p.Lys83Gln) in RUNX1 (Q01196) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Hereditary thrombocytopenia and hematologic cancer predisposition syndrome. The record also includes structural context.
K83Q (p.Lys83Gln) variant details
- p.Lys83Gln
- cosmic curated COSV55885
- Likely pathogenic
- Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- Missense
- ClinVar: Likely pathogenic (Hereditary thrombocytopenia and hematologic cancer predispositio)
- UniProt: Likely pathogenic
- Structural context available