S35I (p.Ser35Ile) variant of SOD1 (Superoxide dismutase [Cu-Zn])
S35I (p.Ser35Ile) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S35I (p.Ser35Ile) variant details
- p.Ser35Ile
- ExAC rs777560607
- TOPMed rs777560607
- gnomAD rs777560607
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.24
- MetaLR 0.94
- MetaSVM 0.87
- CADD 9.24
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available