G58A (p.Gly58Ala) variant of F9 (Coagulation factor IX)
G58A (p.Gly58Ala) 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 0.84 / 1. The record also includes published literature and structural context.
G58A (p.Gly58Ala) variant details
- p.Gly58Ala
- rs1927495541
- UniProt VAR 006535
- TOPMed rs1927495541
- Pathogenic
- 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: 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)