R22T (p.Arg22Thr) variant of F8 (Coagulation factor VIII)
R22T (p.Arg22Thr) 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.
R22T (p.Arg22Thr) variant details
- p.Arg22Thr
- UniProt VAR 028448
- Pathogenic
- in HEMA
- Missense
- MetaLR 0.98
- MetaSVM 1.08
- SIFT 0.01
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Structural context available
- Cited in: The identification and classification of 41 novel mutations in the factor VIII gene (F8C). (PMID 11857744)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)