G28R (p.Gly28Arg) variant of SOD1 (Superoxide dismutase [Cu-Zn])
G28R (p.Gly28Arg) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
G28R (p.Gly28Arg) variant details
- p.Gly28Arg
- gnomAD 21-31663799-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.44
- MetaLR 0.98
- MetaSVM 1.00
- CADD 23.10
- PolyPhen-2 0.78
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available