E739K (p.Glu739Lys) variant of F8 (Coagulation factor VIII)
E739K (p.Glu739Lys) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary factor VIII deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
E739K (p.Glu739Lys) variant details
- p.Glu739Lys
- rs28937285
- ClinGen CA255139
- ClinVar RCV000010960
- ClinVar RCV004745152
- Pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.61
- MetaLR 0.85
- MetaSVM 0.44
- CADD 10.60
- PolyPhen-2 0.17
- SIFT 0.04
- ClinVar: Pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available
- Cited in: The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important… (PMID 32166871)
- Cited in: Molecular etiology of factor VIII deficiency in hemophilia A. (PMID 7728145)