I18I (p.Ile18Ile) variant of SOD1 (Superoxide dismutase [Cu-Zn])
I18I (p.Ile18Ile) in SOD1 (Superoxide dismutase [Cu-Zn]) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
I18I (p.Ile18Ile) variant details
- p.Ile18Ile
- rs1447729350
- gnomAD 21-31659823-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.358
- CADD 16.30
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available