I33T (p.Ile33Thr) variant of G6PD (P11413)
I33T (p.Ile33Thr) in G6PD (P11413) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
I33T (p.Ile33Thr) variant details
- p.Ile33Thr
- rs398123552
- ClinGen CA201564
- ClinVar RCV000175655
- ClinVar RCV005089541
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.57
- CADD 21.80
- PolyPhen-2 0.08
- SIFT 0.38
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)