A44G (p.Ala44Gly) variant of G6PD (P11413)
A44G (p.Ala44Gly) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A44G (p.Ala44Gly) variant details
- p.Ala44Gly
- rs78478128
- ClinGen CA121031
- ClinVar RCV000011149
- ClinVar RCV000699943
- Pathogenic/Likely pathogenic
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Malaria, susceptibilit
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.97
- CADD 29.90
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Malari)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Genetic epidemiology of structural mutations of the beta-globin gene. (PMID 2255919)
- Cited in: A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala-->Gly), is the major polymorphic variant in tribal… (PMID 8533762)