K97M (p.Lys97Met) variant of G6PD (P11413)
K97M (p.Lys97Met) 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 0.63 / 1. The record also includes published literature and structural context.
K97M (p.Lys97Met) variant details
- p.Lys97Met
- rs782315044
- ClinGen CA415239298
- ClinVar RCV002305827
- Likely pathogenic
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- AlphaMissense 0.18
- MetaLR 0.96
- MetaSVM 0.97
- PolyPhen-2 0.09
- SIFT 0.05
- EVE 0.19
- ClinVar: Likely pathogenic (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)