K83E (p.Lys83Glu) variant of RUNX1 (Q01196)
K83E (p.Lys83Glu) in RUNX1 (Q01196) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary thrombocytopenia and hematologic cancer predisposition syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
K83E (p.Lys83Glu) variant details
- p.Lys83Glu
- rs121912498
- ClinGen CA248613
- cosmic curated COSV55887
- ClinVar RCV000015551
- Pathogenic
- Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.93
- ClinVar: Pathogenic (Hereditary thrombocytopenia and hematologic cancer predispositio)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to… (PMID 11830488)
- Cited in: RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies. (PMID 33661592)