K24K (p.Lys24Lys) variant of SOD1 (Superoxide dismutase [Cu-Zn])
K24K (p.Lys24Lys) in SOD1 (Superoxide dismutase [Cu-Zn]) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
K24K (p.Lys24Lys) variant details
- p.Lys24Lys
- rs1467183070
- gnomAD 21-31659841-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.639
- CADD 24.20
- Population evidence available
- Structural context available
- Literature evidence available