I3F (p.Ile3Phe) variant of F8 (Coagulation factor VIII)
I3F (p.Ile3Phe) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
I3F (p.Ile3Phe) variant details
- p.Ile3Phe
- rs1557274700
- gnomAD X-154886151-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- MetaLR 0.79
- MetaSVM 0.16
- CADD 6.39
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 4.2e-06)
- Structural context available
- Literature evidence available