S51F (p.Ser51Phe) variant of SLCO1B1 (Q9Y6L6)
S51F (p.Ser51Phe) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S51F (p.Ser51Phe) variant details
- p.Ser51Phe
- rs769900186
- ClinGen CA6476598
- ClinVar RCV003643512
- ExAC rs769900186
- Uncertain significance
- Rotor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.37
- CADD 22.60
- PolyPhen-2 0.95
- SIFT 0.01
- 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)