A415D (p.Ala415Asp) variant of F8 (Coagulation factor VIII)
A415D (p.Ala415Asp) 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 Hereditary factor VIII deficiency disease. The record also includes published literature and structural context.
A415D (p.Ala415Asp) variant details
- p.Ala415Asp
- rs2523951122
- ClinVar RCV004577665
- Likely pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- ClinVar: Likely pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hemophilia A. (PMID 20301578)
- Cited in: Clinical utility gene card for: haemophilia A. (PMID 21654722)