C24R (p.Cys24Arg) variant of SLCO1B1 (Q9Y6L6)
C24R (p.Cys24Arg) in SLCO1B1 (Q9Y6L6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
C24R (p.Cys24Arg) variant details
- p.Cys24Arg
- gnomAD 12-21141644-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.24
- MetaLR 0.27
- MetaSVM -0.62
- CADD 22.80
- PolyPhen-2 0.89
- SIFT 0.50
- Population evidence available
- Structural context available
- Literature evidence available