C43S (p.Cys43Ser) variant of ABCC1 (P33527)
C43S (p.Cys43Ser) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
C43S (p.Cys43Ser) variant details
- p.Cys43Ser
- rs41395947
- 1000Genomes rs41395947
- ExAC rs41395947
- TOPMed rs41395947
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.43
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.08
- Population evidence available
- Structural context available
- Cited in: Polymorphism of the ABC transporter genes, MDR1, MRP1 and MRP2/cMOAT, in healthy Japanese subjects. (PMID 11266082)