L43V (p.Leu43Val) variant of SLCO1B1 (Q9Y6L6)
L43V (p.Leu43Val) in SLCO1B1 (Q9Y6L6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L43V (p.Leu43Val) variant details
- p.Leu43Val
- ExAC rs746610546
- TOPMed rs746610546
- gnomAD rs746610546
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.06
- CADD 15.90
- PolyPhen-2 0.95
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available