R106W (p.Arg106Trp) variant of MECP2 (Methyl-CpG-binding protein 2)
R106W (p.Arg106Trp) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of MECP2-related disorder; Inborn genetic diseases; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
R106W (p.Arg106Trp) variant details
- p.Arg106Trp
- rs28934907
- ClinGen CA256089
- NCI-TCGA Cosmic COSV5765
- cosmic curated COSV57654
- Pathogenic/Likely pathogenic
- MECP2-related disorder; Inborn genetic diseases; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic/Likely pathogenic (MECP2-related disorder; Inborn genetic diseases; not specified)
- 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)