K386E (p.Lys386Glu) variant of G6PD (P11413)
K386E (p.Lys386Glu) 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 0.70 / 1. The record also includes published literature and structural context.
K386E (p.Lys386Glu) variant details
- p.Lys386Glu
- rs137852320
- ClinGen CA120968
- ClinVar RCV000011096
- ClinVar RCV000011097
- Pathogenic/Likely pathogenic
- not provided; Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- AlphaMissense 0.34
- MetaLR 0.97
- MetaSVM 1.43
- PolyPhen-2 0.61
- SIFT 0.21
- EVE 0.28
- 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: Some Mexican glucose-6-phosphate dehydrogenase variants revisited. (PMID 1999339)
- Cited in: Identification of the binding domain for NADP+ of human glucose-6-phosphate dehydrogenase by sequence analysis of… (PMID 2602358)