D34Y (p.Asp34Tyr) variant of MECP2 (Methyl-CpG-binding protein 2)
D34Y (p.Asp34Tyr) 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 experimental measurements, published literature, and structural context.
D34Y (p.Asp34Tyr) variant details
- p.Asp34Tyr
- rs2522112911
- ClinGen CA415178460
- ClinVar RCV003020611
- 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
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score 0.0015
- Cited in: MECP2 Disorders. (PMID 20301670)