G57G (p.Gly57Gly) variant of SOD1 (Superoxide dismutase [Cu-Zn])
G57G (p.Gly57Gly) in SOD1 (Superoxide dismutase [Cu-Zn]) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
G57G (p.Gly57Gly) variant details
- p.Gly57Gly
- gnomAD 21-31666450-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.228
- CADD 15.60
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available