A127S (p.Ala127Ser) variant of G6PD (P11413)
A127S (p.Ala127Ser) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant in the context of Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The record also includes published literature and structural context.
A127S (p.Ala127Ser) variant details
- p.Ala127Ser
- rs2523271048
- ClinVar RCV002305833
- no classification for the single variant
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- ClinVar: no classification for the single variant
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)