C49V (p.Cys49Val) variant of ABCC1 (P33527)
C49V (p.Cys49Val) in ABCC1 (P33527) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
C49V (p.Cys49Val) variant details
- p.Cys49Val
- rs764056337
- gnomAD 16-16007911-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 26.00
- Population evidence available
- Structural context available
- Literature evidence available