V1752L (p.Val1752Leu) variant of F8 (Coagulation factor VIII)
V1752L (p.Val1752Leu) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Thrombophilia, X-linked, due to factor 8 defect; Hereditary factor VIII deficien. The record also includes structural context.
V1752L (p.Val1752Leu) variant details
- p.Val1752Leu
- TOPMed rs2073039385
- Likely pathogenic
- Thrombophilia, X-linked, due to factor 8 defect; Hereditary factor VIII deficien
- Missense
- ClinVar: Likely pathogenic (Thrombophilia, X-linked, due to factor 8 defect; Hereditary fact)
- UniProt: Likely pathogenic
- Structural context available