I192T (p.Ile192Thr) variant of F8 (Coagulation factor VIII)
I192T (p.Ile192Thr) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Hereditary factor VIII deficiency disease. 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.
I192T (p.Ile192Thr) variant details
- p.Ile192Thr
- rs1448187077
- ClinGen CA414919417
- ClinVar RCV000757250
- ClinVar RCV004702392
- Pathogenic
- not provided; Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.94
- MetaLR 0.98
- MetaSVM 1.14
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Hereditary factor VIII deficiency disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Cited in: Hemophilia A. (PMID 20301578)
- Cited in: Clinical utility gene card for: haemophilia A. (PMID 21654722)