R91W (p.Arg91Trp) variant of MECP2 (Methyl-CpG-binding protein 2)
R91W (p.Arg91Trp) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Severe neonatal-onset encephalopathy with microcephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R91W (p.Arg91Trp) variant details
- p.Arg91Trp
- rs782320257
- ClinGen CA10558643
- cosmic curated COSV57656
- ClinVar RCV001539474
- Uncertain significance
- not provided; Severe neonatal-onset encephalopathy with microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- AlphaMissense 0.99
- MetaLR 0.85
- MetaSVM 0.79
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Uncertain significance (not provided; Severe neonatal-onset encephalopathy with microcep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: MECP2 Disorders. (PMID 20301670)