T76I (p.Thr76Ile) variant of G6PD (P11413)
T76I (p.Thr76Ile) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
T76I (p.Thr76Ile) variant details
- p.Thr76Ile
- rs2148331887
- ClinGen CA415239709
- ClinVar RCV001962583
- Ensembl rs2148331887
- Uncertain significance
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.80
- AlphaMissense 0.70
- MetaLR 0.98
- MetaSVM 1.08
- CADD 24.50
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)