E98K (p.Glu98Lys) variant of F8 (Coagulation factor VIII)
E98K (p.Glu98Lys) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
E98K (p.Glu98Lys) variant details
- p.Glu98Lys
- rs1296842178
- NCI-TCGA Cosmic COSV6427
- UniProt VAR 028465
- TOPMed rs1296842178
- Likely pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.90
- MetaLR 0.96
- MetaSVM 1.11
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Likely 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: A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins. (PMID 9886318)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)