R306H (p.Arg306His) variant of MECP2 (Methyl-CpG-binding protein 2)
R306H (p.Arg306His) 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 Neurodevelopmental disorder; Severe neonatal-onset encephalopathy with microceph. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
R306H (p.Arg306His) variant details
- p.Arg306His
- rs61751443
- ClinGen CA270588
- ClinVar RCV000133290
- ClinVar RCV000256087
- Pathogenic/Likely pathogenic
- Neurodevelopmental disorder; Severe neonatal-onset encephalopathy with microceph
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- AlphaMissense 0.99
- MetaLR 0.81
- MetaSVM 0.79
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic/Likely pathogenic (Neurodevelopmental disorder; Severe neonatal-onset encephalopath)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available
- Cited in: Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation… (PMID 10767337)
- Cited in: Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of… (PMID 11055898)