F73L (p.Phe73Leu) variant of F8 (Coagulation factor VIII)
F73L (p.Phe73Leu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
F73L (p.Phe73Leu) variant details
- p.Phe73Leu
- rs1603436770
- ClinGen CA414920245
- ClinVar RCV001001056
- ClinVar RCV003147573
- Likely pathogenic
- Hereditary factor VIII deficiency disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.81
- MetaLR 0.89
- MetaSVM 0.66
- CADD 23.00
- PolyPhen-2 0.25
- SIFT 0.02
- ClinVar: Likely pathogenic (Hereditary factor VIII deficiency disease; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Hemophilia A. (PMID 20301578)
- Cited in: Clinical utility gene card for: haemophilia A. (PMID 21654722)