R941T (p.Arg941Thr) variant of MECOM (Q03112)
R941T (p.Arg941Thr) 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 record also includes variant effect predictions.
R941T (p.Arg941Thr) variant details
- p.Arg941Thr
- rs2148947240
- ClinGen CA355077771
- ClinVar RCV001548769
- Ensembl rs2148947240
- Pathogenic
- Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
- Missense
- MutPred 0.51
- ClinVar: Pathogenic (Radioulnar synostosis with amegakaryocytic thrombocytopenia 2)
- EBI: Pathogenic
- UniProt: Pathogenic