S62A (p.Ser62Ala) variant of SLCO1B1 (Q9Y6L6)
S62A (p.Ser62Ala) 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 0.15 / 1. The record also includes population frequency data and structural context.
S62A (p.Ser62Ala) variant details
- p.Ser62Ala
- ESP rs144164853
- TOPMed rs144164853
- gnomAD rs144164853
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.14
- CADD 14.10
- PolyPhen-2 0.51
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available