T51I (p.Thr51Ile) variant of G6PD (P11413)
T51I (p.Thr51Ile) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
T51I (p.Thr51Ile) variant details
- p.Thr51Ile
- rs2148332084
- ClinGen CA415240100
- cosmic curated COSV10652
- ClinVar RCV001420431
- Conflicting interpretations
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Conflicting classifications of pathogenicity (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)