I405T (p.Ile405Thr) variant of F8 (Coagulation factor VIII)
I405T (p.Ile405Thr) 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 variant effect predictions and structural context.
I405T (p.Ile405Thr) variant details
- p.Ile405Thr
- TOPMed rs28933670
- Pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- MetaLR 0.98
- MetaSVM 1.06
- SIFT 0.00
- ClinVar: Pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Structural context available