G94SfsX16 variant of PMP22 (Peripheral myelin protein 22)
G94SfsX16 in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
G94SfsX16 variant details
- rs864622678
- Pathogenic
- Missense
- EBI: ['pathogenic']
- UniProt: Pathogenic
- Structural context available