E137G (p.Glu137Gly) variant of MECP2 (Methyl-CpG-binding protein 2)
E137G (p.Glu137Gly) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Severe neonatal-onset encephalopathy with microcephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
E137G (p.Glu137Gly) variant details
- p.Glu137Gly
- rs61748392
- ClinGen CA121705
- ClinVar RCV000012598
- ClinVar RCV001230698
- Pathogenic/Likely pathogenic
- not provided; Severe neonatal-onset encephalopathy with microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic/Likely pathogenic (not provided; Severe neonatal-onset encephalopathy with microcep)
- EBI: Pathogenic (in MRXS13)
- UniProt: Pathogenic (in MRXS13)
- Structural context available
- Cited in: X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a… (PMID 10232754)
- Cited in: MECP2 is highly mutated in X-linked mental retardation. (PMID 11309367)