G7E (p.Gly7Glu) variant of MECP2 (Methyl-CpG-binding protein 2)
G7E (p.Gly7Glu) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes experimental measurements, published literature, and structural context.
G7E (p.Gly7Glu) variant details
- p.Gly7Glu
- rs1057517905
- ClinGen CA16043197
- ClinVar RCV000413833
- ClinVar RCV004786678
- Pathogenic
- not provided; Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- AlphaMissense 0.31
- MetaLR 0.87
- MetaSVM 0.52
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.21
- ClinVar: Pathogenic (not provided; Rett syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.481
- Cited in: MECP2 Disorders. (PMID 20301670)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)