R115C (p.Arg115Cys) variant of MECP2 (Methyl-CpG-binding protein 2)
R115C (p.Arg115Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R115C (p.Arg115Cys) variant details
- p.Arg115Cys
- rs267608388
- ClinGen CA294544
- ClinVar RCV000133074
- ClinVar RCV000715718
- Uncertain significance
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Uncertain significance (Rett syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)