R57W (p.Arg57Trp) variant of SLCO1B1 (Q9Y6L6)
R57W (p.Arg57Trp) in SLCO1B1 (Q9Y6L6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Rotor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R57W (p.Arg57Trp) variant details
- p.Arg57Trp
- rs139257324
- ClinGen CA6476604
- ClinVar RCV001111312
- ESP rs139257324
- Uncertain significance
- Rotor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.57
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Rotor syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Rotor Syndrome. (PMID 23236639)