F328L (p.Phe328Leu) variant of F8 (Coagulation factor VIII)
F328L (p.Phe328Leu) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
F328L (p.Phe328Leu) variant details
- p.Phe328Leu
- rs782668199
- ClinGen CA414917660
- ClinVar RCV000825507
- ClinVar RCV004792545
- Likely pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.82
- MetaLR 0.97
- MetaSVM 1.13
- CADD 23.60
- PolyPhen-2 0.69
- SIFT 0.02
- ClinVar: Likely pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available
- Cited in: Hemophilia A. (PMID 20301578)
- Cited in: Clinical utility gene card for: haemophilia A. (PMID 21654722)