G92E (p.Gly92Glu) variant of MECP2 (Methyl-CpG-binding protein 2)
G92E (p.Gly92Glu) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
G92E (p.Gly92Glu) variant details
- p.Gly92Glu
- rs2148666605
- ClinGen CA415177118
- ClinVar RCV001941309
- Ensembl rs2148666605
- Uncertain significance
- Severe neonatal-onset encephalopathy with microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- 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)