E17* (p.Glu17Ter) variant of SLCO1B1 (Q9Y6L6)
E17* (p.Glu17Ter) in SLCO1B1 (Q9Y6L6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E17* (p.Glu17Ter) variant details
- p.Glu17Ter
- gnomAD 12-21141623-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.27
- CADD 26.80
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available