C7* (p.Cys7Ter) variant of ABCC1 (P33527)
C7* (p.Cys7Ter) in ABCC1 (P33527) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
C7* (p.Cys7Ter) variant details
- p.Cys7Ter
- gnomAD 16-15949772-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.67
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available