E839K (p.Glu839Lys) variant of KIT (P10721)
E839K (p.Glu839Lys) in KIT (P10721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mastocytosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
E839K (p.Glu839Lys) variant details
- p.Glu839Lys
- rs121913509
- ClinGen CA123537
- ClinVar RCV000014876
- UniProt VAR 033136
- Pathogenic
- Mastocytosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- MutPred 0.93
- ClinVar: Pathogenic (Mastocytosis)
- EBI: Pathogenic (in MASTC)
- UniProt: Pathogenic (in MASTC)
- Structural context available
- Cited in: Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a… (PMID 8589724)
- Cited in: Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. (PMID 9990072)