N713I (p.Asn713Ile) variant of F8 (Coagulation factor VIII)
N713I (p.Asn713Ile) 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 0.73 / 1. The record also includes published literature and structural context.
N713I (p.Asn713Ile) variant details
- p.Asn713Ile
- rs1290849675
- ClinGen CA414904027
- ClinVar RCV003494104
- ClinVar RCV005254816
- Likely pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- AlphaMissense 0.16
- MetaLR 0.92
- MetaSVM 1.14
- PolyPhen-2 1.00
- SIFT 0.10
- EVE 0.69
- ClinVar: Likely pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Structural context available
- Cited in: Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family. (PMID 10886198)
- Cited in: Hemophilia A. (PMID 20301578)