D12E (p.Asp12Glu) variant of SOD1 (Superoxide dismutase [Cu-Zn])
D12E (p.Asp12Glu) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
D12E (p.Asp12Glu) variant details
- p.Asp12Glu
- gnomAD 21-31659805-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.25
- MetaLR 0.95
- MetaSVM 0.59
- CADD 8.20
- PolyPhen-2 0.00
- SIFT 0.62
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available