T59I (p.Thr59Ile) variant of SOD1 (Superoxide dismutase [Cu-Zn])
T59I (p.Thr59Ile) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
T59I (p.Thr59Ile) variant details
- p.Thr59Ile
- gnomAD 21-31666455-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.46
- MetaLR 0.93
- MetaSVM 1.06
- CADD 20.90
- PolyPhen-2 0.05
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available