G58R (p.Gly58Arg) variant of F9 (Coagulation factor IX)
G58R (p.Gly58Arg) in F9 (Coagulation factor IX) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HEMB. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
G58R (p.Gly58Arg) variant details
- p.Gly58Arg
- rs1927495402
- UniProt VAR 006536
- TOPMed rs1927495402
- Pathogenic
- in HEMB
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- AlphaMissense 0.69
- MetaLR 1.00
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.96
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Structural context available
- Cited in: Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994. (PMID 7937052)
- Cited in: Identification of twenty-one new mutations in the factor IX gene by SSCP analysis. (PMID 10094553)