S35G (p.Ser35Gly) variant of SOD1 (Superoxide dismutase [Cu-Zn])
S35G (p.Ser35Gly) 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, published literature, and structural context.
S35G (p.Ser35Gly) variant details
- p.Ser35Gly
- gnomAD 21-31663820-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.32
- MetaLR 0.93
- MetaSVM 0.77
- CADD 7.49
- PolyPhen-2 0.07
- SIFT 0.15
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Literature evidence available