I48T (p.Ile48Thr) variant of G6PD (P11413)
I48T (p.Ile48Thr) 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; Malaria, susceptibilit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
I48T (p.Ile48Thr) variant details
- p.Ile48Thr
- rs76645461
- ClinGen CA121021
- ClinVar RCV000011145
- ClinVar RCV000224890
- Likely pathogenic
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Malaria, susceptibilit
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.80
- CADD 22.90
- PolyPhen-2 0.95
- SIFT 1.00
- ClinVar: Likely pathogenic (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: G6PD Aures: a new mutation (48 Ile-->Thr) causing mild G6PD deficiency is associated with favism. (PMID 8490627)
- Cited in: Molecular characterization of a German variant of glucose-6-phosphate dehydrogenase deficiency (G6PD Aachen). (PMID 10772881)