K49E (p.Lys49Glu) variant of SLCO1B1 (Q9Y6L6)
K49E (p.Lys49Glu) in SLCO1B1 (Q9Y6L6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
K49E (p.Lys49Glu) variant details
- p.Lys49Glu
- ExAC rs745339838
- gnomAD rs745339838
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.42
- CADD 25.20
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available