E22* (p.Glu22Ter) variant of SOD1 (Superoxide dismutase [Cu-Zn])
E22* (p.Glu22Ter) in SOD1 (Superoxide dismutase [Cu-Zn]) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E22* (p.Glu22Ter) variant details
- p.Glu22Ter
- gnomAD 21-31659833-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available