P467R (p.Pro467Arg) variant of G6PD (P11413)
P467R (p.Pro467Arg) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
P467R (p.Pro467Arg) variant details
- p.Pro467Arg
- rs137852344
- ClinGen CA121036
- ClinVar RCV000011152
- ClinVar RCV002305435
- Likely pathogenic
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.90
- MetaLR 0.99
- MetaSVM 0.94
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Molecular characterization of G6PD deficiency in Southern Italy: heterogeneity, correlation genotype-phenotype and… (PMID 9233561)
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)