N363K (p.Asn363Lys) variant of G6PD (P11413)
N363K (p.Asn363Lys) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.87 / 1. The record also includes published literature and structural context.
N363K (p.Asn363Lys) variant details
- p.Asn363Lys
- rs137852329
- ClinGen CA415234252
- ClinVar RCV001267397
- ClinVar RCV002305586
- Likely pathogenic
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- AlphaMissense 0.90
- MetaLR 0.99
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.56
- ClinVar: Likely pathogenic (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Structural context available
- Cited in: Molecular characterization of a German variant of glucose-6-phosphate dehydrogenase deficiency (G6PD Aachen). (PMID 10772881)
- Cited in: The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia. (PMID 1978554)