C58Y (p.Cys58Tyr) variant of SOD1 (Superoxide dismutase [Cu-Zn])
C58Y (p.Cys58Tyr) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
C58Y (p.Cys58Tyr) variant details
- p.Cys58Tyr
- gnomAD 21-31666452-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- REVEL 0.97
- MetaLR 0.99
- MetaSVM 0.92
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available