I18T (p.Ile18Thr) variant of SOD1 (Superoxide dismutase [Cu-Zn])
I18T (p.Ile18Thr) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
I18T (p.Ile18Thr) variant details
- p.Ile18Thr
- gnomAD 21-31659822-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.33
- MetaLR 0.76
- MetaSVM 0.08
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available