L75P (p.Leu75Pro) variant of G6PD (P11413)
L75P (p.Leu75Pro) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The record also includes published literature and structural context.
L75P (p.Leu75Pro) variant details
- p.Leu75Pro
- rs2523272742
- ClinGen CA415239727
- ClinVar RCV002305824
- UniProt VAR 002458
- Likely pathogenic
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- ClinVar: Likely pathogenic (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Structural context available
- Cited in: New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia. (PMID 7858267)
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)