R463S (p.Arg463Ser) variant of G6PD (P11413)
R463S (p.Arg463Ser) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of G6PD deficiency; Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
R463S (p.Arg463Ser) variant details
- p.Arg463Ser
- rs1557229502
- ClinGen CA415232605
- ClinVar RCV002305747
- ClinVar RCV005406433
- Likely pathogenic
- G6PD deficiency; Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- AlphaMissense 0.36
- MetaLR 0.99
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Likely pathogenic (G6PD deficiency; Anemia, nonspherocytic hemolytic, due to G6PD d)
- EBI: Likely pathogenic (in Kaiping)
- UniProt: Likely pathogenic (in Kaiping)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)