R57L (p.Arg57Leu) variant of SLCO1B1 (Q9Y6L6)
R57L (p.Arg57Leu) in SLCO1B1 (Q9Y6L6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R57L (p.Arg57Leu) variant details
- p.Arg57Leu
- gnomAD 12-21172735-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.61
- MetaLR 0.39
- MetaSVM 0.04
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available