L20L (p.Leu20Leu) variant of F9 (Coagulation factor IX)
L20L (p.Leu20Leu) in F9 (Coagulation factor IX) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L20L (p.Leu20Leu) variant details
- p.Leu20Leu
- rs762082146
- gnomAD X-139530824-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.117
- CADD 5.38
- Most common in the Ashkenazi Jewish population (allele frequency 0.00038)
- Structural context available
- Literature evidence available