R22S (p.Arg22Ser) variant of SLCO1B1 (Q9Y6L6)
R22S (p.Arg22Ser) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R22S (p.Arg22Ser) variant details
- p.Arg22Ser
- rs142087529
- ClinGen CA6476546
- ClinVar RCV000284110
- ESP rs142087529
- Uncertain significance
- Rotor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.15
- CADD 10.80
- PolyPhen-2 0.01
- SIFT 0.47
- ClinVar: Uncertain significance (Rotor syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Cited in: Rotor Syndrome. (PMID 23236639)