C49S (p.Cys49Ser) variant of ABCC1 (P33527)
C49S (p.Cys49Ser) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
C49S (p.Cys49Ser) variant details
- p.Cys49Ser
- gnomAD rs2047609874
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.15
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available