P29Q (p.Pro29Gln) variant of SOD1 (Superoxide dismutase [Cu-Zn])
P29Q (p.Pro29Gln) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
P29Q (p.Pro29Gln) variant details
- p.Pro29Gln
- gnomAD 21-31663803-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.40
- MetaLR 0.98
- MetaSVM 1.23
- CADD 17.90
- PolyPhen-2 0.60
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available