L43I (p.Leu43Ile) variant of SLCO1B1 (Q9Y6L6)
L43I (p.Leu43Ile) in SLCO1B1 (Q9Y6L6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L43I (p.Leu43Ile) variant details
- p.Leu43Ile
- rs746610546
- ClinGen CA384103621
- ClinVar RCV004457116
- ExAC rs746610546
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.07
- CADD 11.60
- PolyPhen-2 0.76
- SIFT 0.08
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available