I3K (p.Ile3Lys) variant of F8 (Coagulation factor VIII)
I3K (p.Ile3Lys) in F8 (Coagulation factor VIII) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
I3K (p.Ile3Lys) variant details
- p.Ile3Lys
- rs2072867912
- gnomAD X-154882094-TGCTA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.223
- CADD 1.14
- Most common in the Non-Finnish European population (allele frequency 2.1e-05)
- Structural context available
- Literature evidence available