N27S (p.Asn27Ser) variant of SOD1 (Superoxide dismutase [Cu-Zn])
N27S (p.Asn27Ser) 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, published literature, and structural context.
N27S (p.Asn27Ser) variant details
- p.Asn27Ser
- gnomAD 21-31663797-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.34
- MetaLR 0.91
- MetaSVM 1.55
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.63
- Population evidence available
- Structural context available
- Literature evidence available