G60S (p.Gly60Ser) variant of MECP2 (Methyl-CpG-binding protein 2)
G60S (p.Gly60Ser) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Severe neonatal-onset encephalopathy with microcephaly. The record also includes experimental measurements, published literature, and structural context.
G60S (p.Gly60Ser) variant details
- p.Gly60Ser
- rs2522111128
- ClinGen CA415177654
- ClinVar RCV003023622
- Pathogenic
- Severe neonatal-onset encephalopathy with microcephaly
- Missense
- ClinVar: Pathogenic (Severe neonatal-onset encephalopathy with microcephaly)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score 0.0512
- Cited in: MECP2 Disorders. (PMID 20301670)