I3V (p.Ile3Val) variant of F8 (Coagulation factor VIII)
I3V (p.Ile3Val) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
I3V (p.Ile3Val) variant details
- p.Ile3Val
- rs1417021921
- gnomAD X-154882108-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 5.37
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available