V104G (p.Val104Gly) variant of F8 (Coagulation factor VIII)
V104G (p.Val104Gly) 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 and structural context.
V104G (p.Val104Gly) variant details
- p.Val104Gly
- TOPMed rs137852383
- Pathogenic
- in HEMA
- Missense
- MetaLR 0.97
- MetaSVM 1.09
- SIFT 0.00
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Structural context available