R81H (p.Arg81His) variant of G6PD (P11413)
R81H (p.Arg81His) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Anemia, nonspherocytic hemolytic, due to G6PD deficiency; not specified. 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.
R81H (p.Arg81His) variant details
- p.Arg81His
- rs782308266
- ClinGen CA10566296
- cosmic curated COSV63704
- ClinVar RCV002017043
- Conflicting interpretations
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.77
- CADD 23.00
- PolyPhen-2 0.68
- SIFT 0.29
- ClinVar: Conflicting classifications of pathogenicity (Anemia, nonspherocytic hemolytic, due to G6PD deficiency; not sp)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the… (PMID 8364584)
- Cited in: Molecular characterization of a German variant of glucose-6-phosphate dehydrogenase deficiency (G6PD Aachen). (PMID 10772881)