G410C (p.Gly410Cys) variant of G6PD (P11413)
G410C (p.Gly410Cys) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
G410C (p.Gly410Cys) variant details
- p.Gly410Cys
- rs137852323
- ClinGen CA120974
- ClinVar RCV000011102
- ClinVar RCV002305430
- Pathogenic/Likely pathogenic
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- AlphaMissense 0.80
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 0.62
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic/Likely pathogenic (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Structural context available
- Cited in: Molecular abnormality of a Japanese glucose-6-phosphate dehydrogenase variant (G6PD Tokyo) associated with hereditary… (PMID 1733837)
- Cited in: Identification of the binding domain for NADP+ of human glucose-6-phosphate dehydrogenase by sequence analysis of… (PMID 2602358)