P98H (p.Pro98His) variant of MECP2 (Methyl-CpG-binding protein 2)
P98H (p.Pro98His) 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 variant effect predictions and structural context.
P98H (p.Pro98His) variant details
- p.Pro98His
- NCI-TCGA TCGA novel
- Uncertain significance
- Severe neonatal-onset encephalopathy with microcephaly
- Missense
- MetaLR 0.86
- MetaSVM 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (Severe neonatal-onset encephalopathy with microcephaly)
- UniProt: Uncertain significance
- Structural context available