E137Q (p.Glu137Gln) variant of MECP2 (Methyl-CpG-binding protein 2)
E137Q (p.Glu137Gln) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Severe neonatal-onset encephalopathy with microcephaly. The record also includes published literature and structural context.
E137Q (p.Glu137Gln) variant details
- p.Glu137Gln
- rs2522088967
- ClinGen CA415175175
- ClinVar RCV003639414
- Likely pathogenic
- Severe neonatal-onset encephalopathy with microcephaly
- Missense
- ClinVar: Likely pathogenic (Severe neonatal-onset encephalopathy with microcephaly)
- EBI: Likely pathogenic (in MRXS13)
- UniProt: Likely pathogenic (in MRXS13)
- Structural context available
- Cited in: MECP2 Disorders. (PMID 20301670)