A56E (p.Ala56Glu) variant of SOD1 (Superoxide dismutase [Cu-Zn])
A56E (p.Ala56Glu) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A56E (p.Ala56Glu) variant details
- p.Ala56Glu
- gnomAD 21-31663884-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.40
- MetaLR 0.96
- MetaSVM 1.20
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available