K4N (p.Lys4Asn) variant of SOD1 (Superoxide dismutase [Cu-Zn])
K4N (p.Lys4Asn) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
K4N (p.Lys4Asn) variant details
- p.Lys4Asn
- gnomAD 21-31659781-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.60
- MetaLR 0.99
- MetaSVM 1.19
- CADD 28.30
- PolyPhen-2 0.83
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available