E55* (p.Glu55Ter) variant of ZRSR2 (Q15696)
E55* (p.Glu55Ter) in ZRSR2 (Q15696) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E55* (p.Glu55Ter) variant details
- p.Glu55Ter
- gnomAD X-15799913-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.545
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available