A11S (p.Ala11Ser) variant of SLCO1B1 (Q9Y6L6)
A11S (p.Ala11Ser) 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 0.03 / 1. The record also includes population frequency data and structural context.
A11S (p.Ala11Ser) variant details
- p.Ala11Ser
- rs1940309529
- ClinGen CA384101143
- ClinVar RCV004305955
- Ensembl rs1940309529
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.0281
- REVEL 0.01
- CADD 0.24
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available