H1973L (p.His1973Leu) variant of F8 (Coagulation factor VIII)
H1973L (p.His1973Leu) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Factor VIII deficiency; Hereditary factor IX 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.
H1973L (p.His1973Leu) variant details
- p.His1973Leu
- rs1273080258
- ClinGen CA414905984
- ClinVar RCV000852165
- UniProt VAR 028648
- Pathogenic/Likely pathogenic
- Factor VIII deficiency; Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.81
- MetaLR 0.99
- MetaSVM 1.01
- CADD 26.00
- PolyPhen-2 0.92
- SIFT 0.05
- ClinVar: Pathogenic/Likely pathogenic (Factor VIII deficiency; Hereditary factor IX deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage… (PMID 10404764)
- Cited in: Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with… (PMID 10554831)