I3L (p.Ile3Leu) variant of F8 (Coagulation factor VIII)
I3L (p.Ile3Leu) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
I3L (p.Ile3Leu) variant details
- p.Ile3Leu
- gnomAD X-154886151-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- MetaLR 0.76
- MetaSVM -0.00
- CADD 6.57
- SIFT 0.32
- Most common in the Latino/Admixed American population (allele frequency 8.6e-05)
- Structural context available
- Literature evidence available