C103* (p.Cys103Ter) variant of SLC22A2 (O15244)
C103* (p.Cys103Ter) in SLC22A2 (O15244) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
C103* (p.Cys103Ter) variant details
- p.Cys103Ter
- ExAC rs781688839
- TOPMed rs781688839
- gnomAD rs781688839
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.477
- CADD 35.00
- Population evidence available
- Structural context available