G28D (p.Gly28Asp) variant of SOD1 (Superoxide dismutase [Cu-Zn])
G28D (p.Gly28Asp) in SOD1 (Superoxide dismutase [Cu-Zn]) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G28D (p.Gly28Asp) variant details
- p.Gly28Asp
- gnomAD 21-31663798-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.244
- CADD 23.10
- Population evidence available
- Structural context available
- Literature evidence available