R387C (p.Arg387Cys) variant of G6PD (P11413)
R387C (p.Arg387Cys) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.88 / 1. The record also includes published literature and structural context.
R387C (p.Arg387Cys) variant details
- p.Arg387Cys
- rs137852334
- ClinGen CA121006
- cosmic curated COSV10970
- ClinVar RCV000011132
- Likely pathogenic
- not provided; Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- AlphaMissense 0.72
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely pathogenic (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Structural context available
- Cited in: New glucose-6-phosphate dehydrogenase mutations from various ethnic groups. (PMID 1611091)
- Cited in: Selectivity of proteases as a basis for tissue distribution of enzymes in hereditary deficiencies. (PMID 6344088)