Q19E (p.Gln19Glu) variant of MECP2 (Methyl-CpG-binding protein 2)
Q19E (p.Gln19Glu) 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 0.54 / 1. The record also includes experimental measurements, published literature, and structural context.
Q19E (p.Gln19Glu) variant details
- p.Gln19Glu
- rs61754425
- ClinGen CA415178943
- NCI-TCGA Cosmic COSV5765
- cosmic curated COSV57652
- Uncertain significance
- Severe neonatal-onset encephalopathy with microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- AlphaMissense 0.09
- MetaLR 0.82
- MetaSVM 0.62
- PolyPhen-2 0.05
- SIFT 0.01
- EVE 0.10
- ClinVar: Uncertain significance (Severe neonatal-onset encephalopathy with microcephaly)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score 0.118
- Cited in: MECP2 Disorders. (PMID 20301670)