Q956E (p.Gln956Glu) variant of MECOM (Q03112)
Q956E (p.Gln956Glu) in MECOM (Q03112) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Radioulnar synostosis. The record also includes variant effect predictions.
Q956E (p.Gln956Glu) variant details
- p.Gln956Glu
- rs2148891074
- ClinGen CA355074214
- ClinVar RCV002266021
- Ensembl rs2148891074
- Likely pathogenic
- Radioulnar synostosis
- Missense
- MutPred 0.55
- ClinVar: Likely pathogenic (Radioulnar synostosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic