R459P (p.Arg459Pro) variant of G6PD (P11413)
R459P (p.Arg459Pro) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Anemia, nonspherocytic hemolytic, due to G6PD deficiency; G6PD def. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R459P (p.Arg459Pro) variant details
- p.Arg459Pro
- rs72554665
- ClinGen CA121060
- ClinVar RCV000011167
- ClinVar RCV000354491
- Pathogenic
- not provided; Anemia, nonspherocytic hemolytic, due to G6PD deficiency; G6PD def
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.84
- MetaLR 0.99
- MetaSVM 0.99
- CADD 23.40
- PolyPhen-2 0.88
- SIFT 0.03
- ClinVar: Pathogenic (not provided; Anemia, nonspherocytic hemolytic, due to G6PD defi)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split. (PMID 16143877)
- Cited in: Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency revealed by single-strand conformation and… (PMID 8447319)