L52L (p.Leu52Leu) variant of F9 (Coagulation factor IX)
L52L (p.Leu52Leu) in F9 (Coagulation factor IX) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
L52L (p.Leu52Leu) variant details
- p.Leu52Leu
- rs1470729875
- gnomAD X-139537075-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0994
- CADD 2.65
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available