R309W (p.Arg309Trp) variant of MECP2 (Methyl-CpG-binding protein 2)
R309W (p.Arg309Trp) 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 record also includes published literature and structural context.
R309W (p.Arg309Trp) variant details
- p.Arg309Trp
- rs61751444
- ClinGen CA199325
- NCI-TCGA Cosmic COSV5765
- cosmic curated COSV57656
- Pathogenic
- Rett syndrome
- Missense
- ClinVar: Pathogenic (Rett syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: MECP2 Disorders. (PMID 20301670)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)