D90H (p.Asp90His) variant of MECP2 (Methyl-CpG-binding protein 2)
D90H (p.Asp90His) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Severe neonatal-onset encephalopathy with microcephaly. The record also includes published literature and structural context.
D90H (p.Asp90His) variant details
- p.Asp90His
- rs2522109031
- ClinGen CA415177164
- ClinVar RCV003522765
- Uncertain significance
- Severe neonatal-onset encephalopathy with microcephaly
- Missense
- ClinVar: Uncertain significance (Severe neonatal-onset encephalopathy with microcephaly)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: MECP2 Disorders. (PMID 20301670)