T696I (p.Thr696Ile) variant of F8 (Coagulation factor VIII)
T696I (p.Thr696Ile) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
T696I (p.Thr696Ile) variant details
- p.Thr696Ile
- rs1433146066
- ClinGen CA414909018
- ClinVar RCV003510973
- TOPMed rs1433146066
- Pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.93
- MetaLR 0.96
- MetaSVM 1.21
- CADD 25.30
- SIFT 0.00
- ClinVar: Pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 9.5e-05)
- Structural context available
- Cited in: Hemophilia A. (PMID 20301578)
- Cited in: Clinical utility gene card for: haemophilia A. (PMID 21654722)