E11G (p.Glu11Gly) variant of MECP2 (Methyl-CpG-binding protein 2)
E11G (p.Glu11Gly) 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 not provided; Severe neonatal-onset encephalopathy with microcephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E11G (p.Glu11Gly) variant details
- p.Glu11Gly
- rs782735472
- ClinGen CA10558666
- ClinVar RCV002046520
- ClinVar RCV003438912
- Uncertain significance
- not provided; Severe neonatal-onset encephalopathy with microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- AlphaMissense 0.24
- MetaLR 0.91
- MetaSVM 0.99
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.22
- ClinVar: Uncertain significance (not provided; Severe neonatal-onset encephalopathy with microcep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.62
- Cited in: MECP2 Disorders. (PMID 20301670)