R133H (p.Arg133His) variant of MECP2 (Methyl-CpG-binding protein 2)
R133H (p.Arg133His) 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 0.90 / 1. The record also includes published literature and structural context.
R133H (p.Arg133His) variant details
- p.Arg133His
- rs61748389
- ClinGen CA274538
- NCI-TCGA Cosmic COSV5765
- cosmic curated COSV57652
- Pathogenic
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic (Rett syndrome)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available
- Cited in: MeCP2 mutations in children with and without the phenotype of Rett syndrome. (PMID 11402105)
- Cited in: Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation. (PMID 11706982)