p.Leu9dup variant of F7 (Coagulation factor VII)
p.Leu9dup in F7 (Coagulation factor VII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu9dup variant details
- gnomAD 13-113105862-G-GC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.248
- CADD 8.64
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available