R91P (p.Arg91Pro) variant of MECP2 (Methyl-CpG-binding protein 2)
R91P (p.Arg91Pro) 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 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 published literature and structural context.
R91P (p.Arg91Pro) variant details
- p.Arg91Pro
- rs782177397
- ClinGen CA415177145
- ClinVar RCV003639717
- ClinVar RCV003988136
- Uncertain significance
- 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 (Severe neonatal-onset encephalopathy with microcephaly)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)