K24Q (p.Lys24Gln) variant of SOD1 (Superoxide dismutase [Cu-Zn])
K24Q (p.Lys24Gln) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K24Q (p.Lys24Gln) variant details
- p.Lys24Gln
- gnomAD 21-31659839-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.41
- MetaLR 0.90
- MetaSVM 0.17
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.67
- Population evidence available
- Structural context available
- Literature evidence available