S37T (p.Ser37Thr) variant of SLCO1B1 (Q9Y6L6)
S37T (p.Ser37Thr) in SLCO1B1 (Q9Y6L6) is a missense change. Clinical records from ClinVar 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 0.19 / 1. The record also includes population frequency data and structural context.
S37T (p.Ser37Thr) variant details
- p.Ser37Thr
- 1000Genomes rs556524705
- ExAC rs556524705
- TOPMed rs556524705
- gnomAD rs556524705
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.15
- CADD 4.25
- PolyPhen-2 0.08
- SIFT 0.09
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available