C49R (p.Cys49Arg) variant of ABCC1 (P33527)
C49R (p.Cys49Arg) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
C49R (p.Cys49Arg) variant details
- p.Cys49Arg
- gnomAD rs1213779535
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.23
- CADD 23.60
- PolyPhen-2 0.28
- SIFT 0.01
- Population evidence available
- Structural context available