E41K (p.Glu41Lys) variant of SOD1 (Superoxide dismutase [Cu-Zn])
E41K (p.Glu41Lys) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E41K (p.Glu41Lys) variant details
- p.Glu41Lys
- gnomAD 21-31663838-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.45
- MetaLR 0.93
- MetaSVM 1.14
- CADD 20.50
- PolyPhen-2 0.02
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available