E50* (p.Glu50Ter) variant of SOD1 (Superoxide dismutase [Cu-Zn])
E50* (p.Glu50Ter) 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.
E50* (p.Glu50Ter) variant details
- p.Glu50Ter
- gnomAD 21-31663865-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.449
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Literature evidence available