S10RfsX36 variant of MECP2 (Methyl-CpG-binding protein 2)
S10RfsX36 in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
S10RfsX36 variant details
- rs797045693
- Pathogenic
- Missense
- EBI: ['pathogenic']
- UniProt: Pathogenic
- Structural context available