S1907R (p.Ser1907Arg) variant of F8 (Coagulation factor VIII)
S1907R (p.Ser1907Arg) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Factor VIII deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
S1907R (p.Ser1907Arg) variant details
- p.Ser1907Arg
- rs1364158178
- UniProt VAR 028636
- TOPMed rs1364158178
- Likely pathogenic
- Factor VIII deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- MutPred 0.81
- ClinVar: Likely pathogenic (Factor VIII deficiency)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Structural context available
- Cited in: Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses. (PMID 11858487)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)