C58S (p.Cys58Ser) variant of SOD1 (Superoxide dismutase [Cu-Zn])
C58S (p.Cys58Ser) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
C58S (p.Cys58Ser) variant details
- p.Cys58Ser
- gnomAD 21-31666452-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.92
- MetaLR 0.99
- MetaSVM 1.00
- CADD 27.10
- PolyPhen-2 0.53
- SIFT 0.30
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available