F71S (p.Phe71Ser) variant of F9 (Coagulation factor IX)
F71S (p.Phe71Ser) 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 0.82 / 1. The record also includes published literature and structural context.
F71S (p.Phe71Ser) variant details
- p.Phe71Ser
- rs1927498407
- UniProt VAR 006540
- TOPMed rs1927498407
- Pathogenic
- in HEMB
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- AlphaMissense 0.45
- MetaLR 0.96
- MetaSVM 1.12
- PolyPhen-2 1.00
- SIFT 0.03
- MutPred 0.91
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Structural context available
- Cited in: Parental origin of factor IX gene mutations, and their distribution in the gene. (PMID 1346077)
- Cited in: Identification of twenty-one new mutations in the factor IX gene by SSCP analysis. (PMID 10094553)