T158R (p.Thr158Arg) variant of MECP2 (Methyl-CpG-binding protein 2)
T158R (p.Thr158Arg) 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 Severe neonatal-onset encephalopathy with microcephaly; Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
T158R (p.Thr158Arg) variant details
- p.Thr158Arg
- rs28934906
- ClinGen CA415174482
- ClinVar RCV003048506
- ClinVar RCV005930310
- Likely pathogenic
- Severe neonatal-onset encephalopathy with microcephaly; Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.14
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.65
- ClinVar: Likely pathogenic (Severe neonatal-onset encephalopathy with microcephaly; Rett syn)
- EBI: Likely pathogenic (in RTT)
- UniProt: Likely 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)