A44T (p.Ala44Thr) variant of G6PD (P11413)
A44T (p.Ala44Thr) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The record also includes published literature and structural context.
A44T (p.Ala44Thr) variant details
- p.Ala44Thr
- rs2523273296
- ClinGen CA415240196
- ClinVar RCV002305760
- Pathogenic
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- ClinVar: Pathogenic (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)