E50G (p.Glu50Gly) variant of SOD1 (Superoxide dismutase [Cu-Zn])
E50G (p.Glu50Gly) in SOD1 (Superoxide dismutase [Cu-Zn]) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E50G (p.Glu50Gly) variant details
- p.Glu50Gly
- rs752237082
- gnomAD 21-31663865-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.385
- CADD 26.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available