N1941S (p.Asn1941Ser) variant of F8 (Coagulation factor VIII)
N1941S (p.Asn1941Ser) 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 0.92 / 1. The record also includes published literature and structural context.
N1941S (p.Asn1941Ser) variant details
- p.Asn1941Ser
- rs28933682
- ClinGen CA255184
- ClinVar RCV000011007
- ClinVar RCV004791214
- Pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- MutPred 0.92
- ClinVar: Pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Structural context available
- Cited in: Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and… (PMID 1301932)
- Cited in: Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding… (PMID 1908096)