K307N (p.Lys307Asn) variant of MECP2 (Methyl-CpG-binding protein 2)
K307N (p.Lys307Asn) 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.
K307N (p.Lys307Asn) variant details
- p.Lys307Asn
- rs2522065305
- ClinGen CA415168953
- ClinVar RCV003640232
- 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)