F173L (p.Phe173Leu) variant of G6PD (P11413)
F173L (p.Phe173Leu) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Anemia, nonspherocytic hemolytic, due to G6PD deficiency; G6PD deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
F173L (p.Phe173Leu) variant details
- p.Phe173Leu
- rs200111236
- ClinGen CA415238108
- ClinVar RCV002305766
- ClinVar RCV005058253
- Pathogenic
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency; G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.89
- CADD 19.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Anemia, nonspherocytic hemolytic, due to G6PD deficiency; G6PD d)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: G6PD NanKang (517 T-->C; 173 Phe-->Leu): a new Chinese G6PD variant associated with neonatal jaundice. (PMID 8807322)
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)