K24N (p.Lys24Asn) variant of SOD1 (Superoxide dismutase [Cu-Zn])
K24N (p.Lys24Asn) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
K24N (p.Lys24Asn) variant details
- p.Lys24Asn
- gnomAD 21-31659841-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.46
- MetaLR 0.93
- MetaSVM 1.00
- CADD 32.00
- PolyPhen-2 0.29
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available