K67N (p.Lys67Asn) variant of F8 (Coagulation factor VIII)
K67N (p.Lys67Asn) in F8 (Coagulation factor VIII) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HEMA. The record also includes variant effect predictions, published literature, and structural context.
K67N (p.Lys67Asn) variant details
- p.Lys67Asn
- NCI-TCGA Cosmic COSV1008
- UniProt VAR 028457
- Pathogenic
- in HEMA
- Missense
- MetaLR 0.98
- MetaSVM 1.05
- SIFT 0.05
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Structural context available
- Cited in: Molecular pathology of haemophilia A in Turkish patients: identification of 36 independent mutations. (PMID 11554935)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)