E2341K (p.Glu2341Lys) variant of F8 (Coagulation factor VIII)
E2341K (p.Glu2341Lys) 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 0.97 / 1. The record also includes published literature and structural context.
E2341K (p.Glu2341Lys) variant details
- p.Glu2341Lys
- rs2072484280
- ClinGen CA414896766
- ClinVar RCV001286176
- Ensembl rs2072484280
- Likely pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.974
- MutPred 0.97
- ClinVar: Likely pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hemophilia A. (PMID 20301578)
- Cited in: Clinical utility gene card for: haemophilia A. (PMID 21654722)