A61E (p.Ala61Glu) variant of SOD1 (Superoxide dismutase [Cu-Zn])
A61E (p.Ala61Glu) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
A61E (p.Ala61Glu) variant details
- p.Ala61Glu
- gnomAD rs1378635853
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.94
- MetaLR 0.99
- MetaSVM 0.91
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.94
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available