R115H (p.Arg115His) variant of MECP2 (Methyl-CpG-binding protein 2)
R115H (p.Arg115His) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R115H (p.Arg115His) variant details
- p.Arg115His
- rs782638331
- ClinGen CA10558640
- NCI-TCGA Cosmic COSV5765
- cosmic curated COSV57653
- Pathogenic
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.12
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic (Rett syndrome)
- EBI: Pathogenic
- UniProt: 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)