S62P (p.Ser62Pro) variant of SLCO1B1 (Q9Y6L6)
S62P (p.Ser62Pro) 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 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
S62P (p.Ser62Pro) variant details
- p.Ser62Pro
- rs144164853
- ClinGen CA10632399
- ClinVar RCV000339101
- ESP rs144164853
- Uncertain significance
- Rotor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0974
- REVEL 0.08
- CADD 7.23
- PolyPhen-2 0.02
- SIFT 0.53
- ClinVar: Uncertain significance (Rotor syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: Rotor Syndrome. (PMID 23236639)