R167W (p.Arg167Trp) variant of MECP2 (Methyl-CpG-binding protein 2)
R167W (p.Arg167Trp) 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
R167W (p.Arg167Trp) variant details
- p.Arg167Trp
- rs61748420
- ClinGen CA170308
- ClinVar RCV000133142
- ClinVar RCV000193537
- Pathogenic
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- AlphaMissense 0.15
- ClinVar: Pathogenic (Rett syndrome)
- EBI: Pathogenic (in MRXS13)
- UniProt: Pathogenic (in MRXS13)
- Population evidence available
- Structural context available
- Cited in: MECP2 is highly mutated in X-linked mental retardation. (PMID 11309367)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)