R111G (p.Arg111Gly) variant of MECP2 (Methyl-CpG-binding protein 2)
R111G (p.Arg111Gly) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
R111G (p.Arg111Gly) variant details
- p.Arg111Gly
- rs61754459
- ClinGen CA270357
- ClinVar RCV000133071
- UniProt VAR 018187
- Likely pathogenic
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Likely pathogenic (Rett syndrome)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available
- Cited in: Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions. (PMID 11241840)
- Cited in: MECP2 Disorders. (PMID 20301670)