C385R (p.Cys385Arg) variant of G6PD (P11413)
C385R (p.Cys385Arg) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of G6PD TOMAH; Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
C385R (p.Cys385Arg) variant details
- p.Cys385Arg
- rs137852322
- ClinGen CA120972
- ClinVar RCV000011101
- ClinVar RCV002305429
- Pathogenic
- G6PD TOMAH; Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- AlphaMissense 0.73
- MetaLR 0.97
- MetaSVM 1.04
- PolyPhen-2 0.98
- SIFT 0.09
- EVE 0.26
- ClinVar: Pathogenic (G6PD TOMAH; Anemia, nonspherocytic hemolytic, due to G6PD defici)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Structural context available
- Cited in: Identification of the binding domain for NADP+ of human glucose-6-phosphate dehydrogenase by sequence analysis of… (PMID 2602358)
- Cited in: Molecular characterization of a German variant of glucose-6-phosphate dehydrogenase deficiency (G6PD Aachen). (PMID 10772881)