I19I (p.Ile19Ile) variant of SOD1 (Superoxide dismutase [Cu-Zn])
I19I (p.Ile19Ile) in SOD1 (Superoxide dismutase [Cu-Zn]) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
I19I (p.Ile19Ile) variant details
- p.Ile19Ile
- rs1182088847
- gnomAD 21-31659826-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.426
- CADD 15.80
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Literature evidence available