H930R (p.His930Arg) variant of MECOM (Q03112)
H930R (p.His930Arg) in MECOM (Q03112) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Radioulnar synostosis with amegakaryocytic thrombocytopenia 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature.
H930R (p.His930Arg) variant details
- p.His930Arg
- rs864309723
- ClinGen CA278801
- ClinVar RCV000203303
- UniProt VAR 076309
- Pathogenic
- Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- MutPred 0.91
- ClinVar: Pathogenic (Radioulnar synostosis with amegakaryocytic thrombocytopenia 2)
- EBI: Pathogenic (in RUSAT2)
- UniProt: Pathogenic (in RUSAT2)
- Cited in: Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia. (PMID 26581901)