D156E (p.Asp156Glu) variant of MECP2 (Methyl-CpG-binding protein 2)
D156E (p.Asp156Glu) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Severe neonatal-onset encephalopathy with microcephaly; Rett syndr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
D156E (p.Asp156Glu) variant details
- p.Asp156Glu
- rs61748408
- ClinGen CA16609353
- ClinVar RCV000445574
- Ensembl rs61748408
- Likely pathogenic
- not provided; Severe neonatal-onset encephalopathy with microcephaly; Rett syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.66
- ClinVar: Likely pathogenic (Rett syndrome)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available
- Cited in: MECP2 Disorders. (PMID 20301670)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)