R106G (p.Arg106Gly) variant of MECP2 (Methyl-CpG-binding protein 2)
R106G (p.Arg106Gly) 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 MECP2-related disorder; Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
R106G (p.Arg106Gly) variant details
- p.Arg106Gly
- rs28934907
- ClinGen CA270345
- ClinVar RCV000133065
- ClinVar RCV004532600
- Likely pathogenic
- MECP2-related disorder; Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Likely pathogenic (MECP2-related disorder; Rett syndrome)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- 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)