G58E (p.Gly58Glu) variant of F9 (Coagulation factor IX)
G58E (p.Gly58Glu) in F9 (Coagulation factor IX) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in HEMB. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
G58E (p.Gly58Glu) variant details
- p.Gly58Glu
- rs1927495541
- UniProt VAR 073977
- TOPMed rs1927495541
- Uncertain significance
- in HEMB
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- AlphaMissense 0.49
- MetaLR 1.00
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.95
- EBI: Variant of uncertain significance (in HEMB)
- UniProt: Uncertain significance (in HEMB)
- Structural context available
- Cited in: Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five… (PMID 25251685)
- Cited in: Identification of twenty-one new mutations in the factor IX gene by SSCP analysis. (PMID 10094553)