I18V (p.Ile18Val) variant of SOD1 (Superoxide dismutase [Cu-Zn])
I18V (p.Ile18Val) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
I18V (p.Ile18Val) variant details
- p.Ile18Val
- gnomAD rs1460554436
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.31
- MetaLR 0.83
- MetaSVM 0.35
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.58
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available