I53V (p.Ile53Val) variant of SLCO1B1 (Q9Y6L6)
I53V (p.Ile53Val) 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, published literature, and structural context.
I53V (p.Ile53Val) variant details
- p.Ile53Val
- gnomAD 12-21172722-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.15
- MetaLR 0.06
- MetaSVM -1.00
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available