T94I (p.Thr94Ile) variant of F8 (Coagulation factor VIII)
T94I (p.Thr94Ile) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
T94I (p.Thr94Ile) variant details
- p.Thr94Ile
- 1000Genomes rs782288296
- ExAC rs782288296
- TOPMed rs782288296
- gnomAD rs782288296
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.83
- MetaLR 0.95
- MetaSVM 0.88
- CADD 22.90
- PolyPhen-2 0.70
- SIFT 0.09
- Most common in the 1KG:BEB population (allele frequency 0.0067)
- Structural context available