E12R (p.Glu12Arg) variant of SLCO1B1 (Q9Y6L6)
E12R (p.Glu12Arg) in SLCO1B1 (Q9Y6L6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E12R (p.Glu12Arg) variant details
- p.Glu12Arg
- gnomAD 12-21141606-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 19.80
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available