G11S (p.Gly11Ser) variant of SOD1 (Superoxide dismutase [Cu-Zn])
G11S (p.Gly11Ser) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G11S (p.Gly11Ser) variant details
- p.Gly11Ser
- gnomAD 21-31659800-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.85
- MetaLR 0.98
- MetaSVM 1.05
- CADD 26.30
- PolyPhen-2 0.96
- SIFT 0.05
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available