F102S (p.Phe102Ser) variant of G6PD (P11413)
F102S (p.Phe102Ser) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
F102S (p.Phe102Ser) variant details
- p.Phe102Ser
- rs886044847
- ClinGen CA10605373
- ClinVar RCV000285111
- ClinVar RCV002305478
- Conflicting interpretations
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- AlphaMissense 0.60
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.20
- EVE 0.25
- ClinVar: Conflicting classifications of pathogenicity (Anemia, nonspherocytic hemolytic, due to G6PD deficiency; not pr)
- 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)