F157C (p.Phe157Cys) variant of MECP2 (Methyl-CpG-binding protein 2)
F157C (p.Phe157Cys) 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.
F157C (p.Phe157Cys) variant details
- p.Phe157Cys
- rs2522086697
- ClinGen CA415174551
- ClinVar RCV003524291
- Likely pathogenic
- Severe neonatal-onset encephalopathy with microcephaly
- Missense
- ClinVar: Likely pathogenic (Severe neonatal-onset encephalopathy with microcephaly)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: MECP2 Disorders. (PMID 20301670)