Q3K (p.Gln3Lys) variant of SLCO1B1 (Q9Y6L6)
Q3K (p.Gln3Lys) 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 0.27 / 1. The record also includes population frequency data and structural context.
Q3K (p.Gln3Lys) variant details
- p.Gln3Lys
- TOPMed rs1174387858
- gnomAD rs1174387858
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.02
- CADD 2.08
- PolyPhen-2 0.05
- SIFT 0.47
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available