W53X variant of GCH1 (GTP cyclohydrolase 1)
W53X in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
W53X variant details
- rs886041708
- Pathogenic
- Missense
- EBI: ['pathogenic']
- UniProt: Pathogenic
- Structural context available