R463C (p.Arg463Cys) variant of G6PD (P11413)
R463C (p.Arg463Cys) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Malaria, susceptibilit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R463C (p.Arg463Cys) variant details
- p.Arg463Cys
- rs1557229502
- ClinGen CA415232603
- ClinVar RCV002305748
- ClinVar RCV003464443
- Pathogenic/Likely pathogenic
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Malaria, susceptibilit
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.79
- AlphaMissense 0.36
- MetaLR 0.99
- MetaSVM 1.08
- CADD 25.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Malari)
- EBI: Pathogenic (in Kaiping)
- UniProt: Pathogenic (in Kaiping)
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)