P72S (p.Pro72Ser) variant of MECP2 (Methyl-CpG-binding protein 2)
P72S (p.Pro72Ser) 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 experimental measurements and structural context.
P72S (p.Pro72Ser) variant details
- p.Pro72Ser
- ExAC rs781859649
- gnomAD rs781859649
- Uncertain significance
- Severe neonatal-onset encephalopathy with microcephaly
- Missense
- ClinVar: Uncertain significance (Severe neonatal-onset encephalopathy with microcephaly)
- UniProt: Uncertain significance
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.435