Y56C (p.Tyr56Cys) variant of ABCC1 (P33527)
Y56C (p.Tyr56Cys) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Y56C (p.Tyr56Cys) variant details
- p.Tyr56Cys
- ExAC rs565023011
- TOPMed rs565023011
- gnomAD rs565023011
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.21
- CADD 23.70
- PolyPhen-2 0.08
- SIFT 0.02
- Population evidence available
- Structural context available