A55GfsX21 variant of PYGM (P11217)
A55GfsX21 in PYGM (P11217) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
A55GfsX21 variant details
- rs780193588
- Pathogenic
- Missense
- EBI: ['pathogenic']
- UniProt: Pathogenic
- Structural context available