I46L (p.Ile46Leu) variant of SLCO1B1 (Q9Y6L6)
I46L (p.Ile46Leu) in SLCO1B1 (Q9Y6L6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
I46L (p.Ile46Leu) variant details
- p.Ile46Leu
- gnomAD 12-21172699-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.2
- CADD 16.90
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available