A13E (p.Ala13Glu) variant of SLCO1B1 (Q9Y6L6)
A13E (p.Ala13Glu) in SLCO1B1 (Q9Y6L6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
A13E (p.Ala13Glu) variant details
- p.Ala13Glu
- ExAC rs778214174
- TOPMed rs778214174
- gnomAD rs778214174
- Missense
- Variant Prioritization Score for Impact Estimate 0.0716
- REVEL 0.07
- CADD 0.22
- PolyPhen-2 0.01
- SIFT 0.83
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available