E12* (p.Glu12Ter) variant of SLCO1B1 (Q9Y6L6)
E12* (p.Glu12Ter) in SLCO1B1 (Q9Y6L6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
E12* (p.Glu12Ter) variant details
- p.Glu12Ter
- ExAC rs756064979
- TOPMed rs756064979
- gnomAD rs756064979
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.824
- CADD 34.00
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available