L6Q (p.Leu6Gln) variant of F7 (Coagulation factor VII)
L6Q (p.Leu6Gln) in F7 (Coagulation factor VII) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L6Q (p.Leu6Gln) variant details
- p.Leu6Gln
- gnomAD 13-113105854-GCC-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.367
- CADD 13.90
- Population evidence available
- Structural context available
- Literature evidence available