W47C (p.Trp47Cys) variant of ABCC1 (P33527)
W47C (p.Trp47Cys) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
W47C (p.Trp47Cys) variant details
- p.Trp47Cys
- ExAC rs747917739
- gnomAD rs747917739
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.61
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available