R309Q (p.Arg309Gln) variant of MECP2 (Methyl-CpG-binding protein 2)
R309Q (p.Arg309Gln) 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 Severe neonatal-onset encephalopathy with microcephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
R309Q (p.Arg309Gln) variant details
- p.Arg309Gln
- rs2065935636
- ClinGen CA415168891
- cosmic curated COSV57653
- ClinVar RCV001235683
- Likely pathogenic
- Severe neonatal-onset encephalopathy with microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- AlphaMissense 0.93
- MetaLR 0.80
- MetaSVM 0.80
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Likely pathogenic (Severe neonatal-onset encephalopathy with microcephaly)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: MECP2 Disorders. (PMID 20301670)