W18C (p.Trp18Cys) variant of ABCC1 (P33527)
W18C (p.Trp18Cys) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
W18C (p.Trp18Cys) variant details
- p.Trp18Cys
- ExAC rs773051838
- TOPMed rs773051838
- gnomAD rs773051838
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.34
- CADD 24.70
- PolyPhen-2 0.94
- SIFT 0.17
- Population evidence available
- Structural context available