R81C (p.Arg81Cys) variant of G6PD (P11413)
R81C (p.Arg81Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R81C (p.Arg81Cys) variant details
- p.Arg81Cys
- rs138687036
- ClinGen CA10566297
- cosmic curated COSV10889
- ClinVar RCV002305762
- Pathogenic/Likely pathogenic
- not provided; Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.77
- CADD 23.70
- PolyPhen-2 0.09
- 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 Ashkenazi Jewish population (allele frequency 5.1e-05)
- 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)