E41R (p.Glu41Arg) variant of SOD1 (Superoxide dismutase [Cu-Zn])
E41R (p.Glu41Arg) in SOD1 (Superoxide dismutase [Cu-Zn]) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E41R (p.Glu41Arg) variant details
- p.Glu41Arg
- gnomAD 21-31663837-T-TA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.268
- CADD 26.50
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available