G447R (p.Gly447Arg) variant of G6PD (P11413)
G447R (p.Gly447Arg) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Malaria, susceptibilit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
G447R (p.Gly447Arg) variant details
- p.Gly447Arg
- rs137852317
- ClinGen CA120961
- ClinVar RCV000011091
- ClinVar RCV000066233
- Pathogenic/Likely pathogenic
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Malaria, susceptibilit
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- AlphaMissense 0.95
- MetaLR 1.00
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic/Likely pathogenic (Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Malari)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Structural context available
- Cited in: G6PD mahidol, a common deficient variant in South East Asia is caused by a (163)glycine----serine mutation. (PMID 2503817)
- Cited in: Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe… (PMID 3393536)