P524L (p.Pro524Leu) variant of F8 (Coagulation factor VIII)
P524L (p.Pro524Leu) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, 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 variant effect predictions and structural context.
P524L (p.Pro524Leu) variant details
- p.Pro524Leu
- TOPMed rs2073369196
- Likely pathogenic
- Thrombophilia, X-linked, due to factor 8 defect; Hereditary factor VIII deficien
- Missense
- MetaLR 0.99
- MetaSVM 1.01
- SIFT 0.00
- ClinVar: Likely pathogenic (Thrombophilia, X-linked, due to factor 8 defect; Hereditary fact)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available