V2251A (p.Val2251Ala) variant of F8 (Coagulation factor VIII)
V2251A (p.Val2251Ala) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary factor VIII deficiency disease. The record also includes published literature and structural context.
V2251A (p.Val2251Ala) variant details
- p.Val2251Ala
- rs782479558
- UniProt VAR 028699
- ExAC rs782479558
- TOPMed rs782479558
- Pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- ClinVar: Pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Structural context available
- Cited in: Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain… (PMID 10910913)
- Cited in: Small FVIII gene rearrangements in 18 hemophilia A patients: five novel mutations. (PMID 15682412)