R227L (p.Arg227Leu) variant of G6PD (P11413)
R227L (p.Arg227Leu) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R227L (p.Arg227Leu) variant details
- p.Arg227Leu
- rs137852328
- ClinGen CA120990
- cosmic curated COSV10085
- ClinVar RCV000011118
- Likely pathogenic
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.93
- CADD 25.60
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Likely pathogenic (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: Mutation analysis of glucose-6-phosphate dehydrogenase (G6PD) variants in Costa Rica. (PMID 1879833)
- Cited in: Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-). (PMID 2836867)