T42P (p.Thr42Pro) variant of SLCO1B1 (Q9Y6L6)
T42P (p.Thr42Pro) 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
T42P (p.Thr42Pro) variant details
- p.Thr42Pro
- rs780511571
- ClinGen CA6476590
- ClinVar RCV001111311
- ExAC rs780511571
- Uncertain significance
- Rotor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.18
- CADD 7.96
- PolyPhen-2 0.43
- 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 9.9e-07)
- Structural context available
- Cited in: Rotor Syndrome. (PMID 23236639)