F66I (p.Phe66Ile) variant of G6PD (P11413)
F66I (p.Phe66Ile) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
F66I (p.Phe66Ile) variant details
- p.Phe66Ile
- rs2070404146
- ClinGen CA415239856
- ClinVar RCV001877861
- ClinVar RCV004801070
- Conflicting interpretations
- not specified; Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- AlphaMissense 0.20
- MetaLR 0.77
- MetaSVM 0.39
- PolyPhen-2 0.00
- SIFT 0.38
- EVE 0.10
- ClinVar: Conflicting classifications of pathogenicity (not specified; Anemia, nonspherocytic hemolytic, due to G6PD def)
- 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)