E398K (p.Glu398Lys) variant of G6PD (P11413)
E398K (p.Glu398Lys) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
E398K (p.Glu398Lys) variant details
- p.Glu398Lys
- rs137852325
- ClinGen CA337316269
- cosmic curated COSV10085
- ClinVar RCV000991012
- Pathogenic/Likely pathogenic
- not provided; Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- AlphaMissense 0.97
- MetaLR 1.00
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic/Likely pathogenic (not provided; Anemia, nonspherocytic hemolytic, due to G6PD defi)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Structural context available
- Cited in: Mutation analysis of glucose-6-phosphate dehydrogenase (G6PD) variants in Costa Rica. (PMID 1879833)
- Cited in: Molecular characterization of a German variant of glucose-6-phosphate dehydrogenase deficiency (G6PD Aachen). (PMID 10772881)