Y45* (p.Tyr45Ter) variant of ABCC1 (P33527)
Y45* (p.Tyr45Ter) in ABCC1 (P33527) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
Y45* (p.Tyr45Ter) variant details
- p.Tyr45Ter
- gnomAD 16-16007901-ACCTC
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.683
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available