I52V (p.Ile52Val) variant of SLCO1B1 (Q9Y6L6)
I52V (p.Ile52Val) in SLCO1B1 (Q9Y6L6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
I52V (p.Ile52Val) variant details
- p.Ile52Val
- ExAC rs762874802
- TOPMed rs762874802
- gnomAD rs762874802
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.19
- CADD 16.00
- PolyPhen-2 0.30
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available