R133C (p.Arg133Cys) variant of MECP2 (Methyl-CpG-binding protein 2)
R133C (p.Arg133Cys) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
R133C (p.Arg133Cys) variant details
- p.Arg133Cys
- rs28934904
- ClinGen CA211250
- ClinVar RCV000012578
- ClinVar RCV000030666
- Pathogenic
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic (Rett syndrome)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available
- Cited in: Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. (PMID 10508514)
- Cited in: Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. (PMID 10577905)