E12K (p.Glu12Lys) variant of SLCO1B1 (Q9Y6L6)
E12K (p.Glu12Lys) in SLCO1B1 (Q9Y6L6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E12K (p.Glu12Lys) variant details
- p.Glu12Lys
- ExAC rs756064979
- TOPMed rs756064979
- gnomAD rs756064979
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.02
- CADD 13.00
- PolyPhen-2 0.04
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available