L7F (p.Leu7Phe) variant of SLCO1B1 (Q9Y6L6)
L7F (p.Leu7Phe) in SLCO1B1 (Q9Y6L6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
L7F (p.Leu7Phe) variant details
- p.Leu7Phe
- gnomAD 12-21141595-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0967
- REVEL 0.04
- MetaLR 0.14
- MetaSVM -1.01
- CADD 6.14
- PolyPhen-2 0.01
- SIFT 0.35
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available