T94A (p.Thr94Ala) variant of F8 (Coagulation factor VIII)
T94A (p.Thr94Ala) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
T94A (p.Thr94Ala) variant details
- p.Thr94Ala
- ExAC rs782526182
- gnomAD rs782526182
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.70
- MetaLR 0.96
- MetaSVM 0.95
- CADD 23.70
- PolyPhen-2 0.61
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available