R285H (p.Arg285His) variant of G6PD (P11413)
R285H (p.Arg285His) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Malaria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R285H (p.Arg285His) variant details
- p.Arg285His
- rs74575103
- ClinGen CA120941
- cosmic curated COSV63704
- ClinVar RCV000011080
- Pathogenic/Likely pathogenic
- not provided; Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Malaria
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.90
- CADD 25.40
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Pathogenic/Likely 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 9.9e-07)
- Structural context available
- Cited in: Genetic heterogeneity at the glucose-6-phosphate dehydrogenase locus in southern Italy: a study on a population from… (PMID 2253938)
- Cited in: Common glucose-6-phosphate dehydrogenase (G6PD) variants from the Italian population: biochemical and molecular… (PMID 2321910)