R106Q (p.Arg106Gln) variant of MECP2 (Methyl-CpG-binding protein 2)
R106Q (p.Arg106Gln) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; X-linked intellectual disability-psychosis-macroorchidi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
R106Q (p.Arg106Gln) variant details
- p.Arg106Gln
- rs61754457
- ClinGen CA270348
- NCI-TCGA Cosmic COSV5765
- cosmic curated COSV57653
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; X-linked intellectual disability-psychosis-macroorchidi
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; X-linked intellectual disability-psycho)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available
- Cited in: MECP2 mutations account for most cases of typical forms of Rett syndrome. (PMID 10814719)
- Cited in: Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of… (PMID 11055898)