E56D (p.Glu56Asp) variant of SLCO1B1 (Q9Y6L6)
E56D (p.Glu56Asp) in SLCO1B1 (Q9Y6L6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
E56D (p.Glu56Asp) variant details
- p.Glu56Asp
- ExAC rs762153831
- gnomAD rs762153831
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.68
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available