R91Q (p.Arg91Gln) variant of MECP2 (Methyl-CpG-binding protein 2)
R91Q (p.Arg91Gln) 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 Rett syndrome; Severe neonatal-onset encephalopathy with microcephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R91Q (p.Arg91Gln) variant details
- p.Arg91Gln
- rs782177397
- ClinGen CA10558642
- ClinVar RCV001297075
- ClinVar RCV003485703
- Uncertain significance
- Rett syndrome; Severe neonatal-onset encephalopathy with microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- AlphaMissense 0.97
- MetaLR 0.88
- MetaSVM 0.98
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.56
- ClinVar: Uncertain significance (Rett syndrome; Severe neonatal-onset encephalopathy with microce)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: MECP2 Disorders. (PMID 20301670)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)