R9X variant of MECP2 (Methyl-CpG-binding protein 2)
For R9X in MECP2 (Methyl-CpG-binding protein 2), CATVariant brings together the available evidence for this variant. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
R9X variant details
- rs786205042
- Pathogenic
- EBI: ['pathogenic']
- UniProt: Pathogenic
- Structural context available