T76K (p.Thr76Lys) variant of G6PD (P11413)
T76K (p.Thr76Lys) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
T76K (p.Thr76Lys) variant details
- p.Thr76Lys
- rs2148331887
- ClinGen CA415239714
- ClinVar RCV002305825
- ClinVar RCV003438995
- Conflicting interpretations
- not provided; Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- AlphaMissense 0.70
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.62
- ClinVar: Conflicting classifications of pathogenicity (not provided; Anemia, nonspherocytic hemolytic, due to G6PD defi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)