E17V (p.Glu17Val) variant of SLCO1B1 (Q9Y6L6)
E17V (p.Glu17Val) in SLCO1B1 (Q9Y6L6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
E17V (p.Glu17Val) variant details
- p.Glu17Val
- gnomAD 12-21141624-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.08
- MetaLR 0.15
- MetaSVM -0.98
- CADD 2.22
- PolyPhen-2 0.01
- SIFT 0.66
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available