R459G (p.Arg459Gly) variant of G6PD (P11413)
R459G (p.Arg459Gly) 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; G6PD deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
R459G (p.Arg459Gly) variant details
- p.Arg459Gly
- rs2070346788
- ClinGen CA415232663
- ClinVar RCV002305744
- ClinVar RCV003317590
- Likely pathogenic
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency; G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- AlphaMissense 0.19
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.28
- ClinVar: Likely pathogenic (Anemia, nonspherocytic hemolytic, due to G6PD deficiency; G6PD d)
- EBI: Likely pathogenic (in CNSHA1)
- UniProt: Likely pathogenic (in CNSHA1)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)