P257T (p.Pro257Thr) variant of G6PC1 (P35575)
P257T (p.Pro257Thr) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Glycogen storage disease due to glucose-6-phosphatase deficiency type IA. The record also includes structural context.
P257T (p.Pro257Thr) variant details
- p.Pro257Thr
- Ensembl rs1567706384
- Likely pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- ClinVar: Likely pathogenic (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- UniProt: Likely pathogenic (in GSD1A)
- Structural context available