R84W (p.Arg84Trp) variant of MECP2 (Methyl-CpG-binding protein 2)
R84W (p.Arg84Trp) 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 MECP2-related disorder; 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.
R84W (p.Arg84Trp) variant details
- p.Arg84Trp
- rs1557137821
- ClinGen CA415177265
- NCI-TCGA Cosmic COSV5765
- cosmic curated COSV57657
- Uncertain significance
- MECP2-related disorder; Severe neonatal-onset encephalopathy with microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- AlphaMissense 0.99
- MetaLR 0.89
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Uncertain significance (MECP2-related disorder; Severe neonatal-onset encephalopathy wit)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: MECP2 Disorders. (PMID 20301670)