W48* (p.Trp48Ter) variant of CYP1A2 (Cytochrome P450 1A2)
W48* (p.Trp48Ter) in CYP1A2 (Cytochrome P450 1A2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
W48* (p.Trp48Ter) variant details
- p.Trp48Ter
- gnomAD rs1215275194
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.703
- CADD 35.00
- Population evidence available
- Structural context available