D101V (p.Asp101Val) variant of F8 (Coagulation factor VIII)
D101V (p.Asp101Val) in F8 (Coagulation factor VIII) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HEMA. The record also includes variant effect predictions, published literature, and structural context.
D101V (p.Asp101Val) variant details
- p.Asp101Val
- UniProt VAR 028468
- Pathogenic
- in HEMA
- Missense
- MetaLR 0.99
- MetaSVM 1.02
- SIFT 0.00
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Structural context available
- Cited in: Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a… (PMID 8644728)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)