A57T (p.Ala57Thr) variant of MECP2 (Methyl-CpG-binding protein 2)
A57T (p.Ala57Thr) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Severe neonatal-onset encephalopathy with microcephaly. The record also includes population frequency data, experimental measurements, and structural context.
A57T (p.Ala57Thr) variant details
- p.Ala57Thr
- cosmic curated COSV10031
- Ensembl rs2148666914
- Uncertain significance
- Severe neonatal-onset encephalopathy with microcephaly
- Missense
- ClinVar: Uncertain significance (Severe neonatal-onset encephalopathy with microcephaly)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.151