E50E (p.Glu50Glu) variant of SOD1 (Superoxide dismutase [Cu-Zn])
E50E (p.Glu50Glu) in SOD1 (Superoxide dismutase [Cu-Zn]) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E50E (p.Glu50Glu) variant details
- p.Glu50Glu
- rs201045805
- gnomAD 21-31663867-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.19
- CADD 7.10
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available