R4L (p.Arg4Leu) variant of ABCC1 (P33527)
R4L (p.Arg4Leu) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R4L (p.Arg4Leu) variant details
- p.Arg4Leu
- TOPMed rs2045820839
- gnomAD rs2045820839
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.10
- CADD 23.90
- PolyPhen-2 0.02
- SIFT 0.04
- Population evidence available
- Structural context available