A723T (p.Ala723Thr) variant of F8 (Coagulation factor VIII)
A723T (p.Ala723Thr) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thrombophilia, X-linked, due to factor 8 defect; Hereditary factor VIII deficien. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A723T (p.Ala723Thr) variant details
- p.Ala723Thr
- rs137852436
- ClinGen CA255138
- ClinVar RCV000010959
- ClinVar RCV000852072
- Pathogenic
- Thrombophilia, X-linked, due to factor 8 defect; Hereditary factor VIII deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.84
- MetaLR 0.93
- MetaSVM 1.10
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Pathogenic (Thrombophilia, X-linked, due to factor 8 defect; Hereditary fact)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding… (PMID 1908096)
- Cited in: Factor VIII Antigen, Activity, and Mutations in Hemophilia A. (PMID 25550078)