C22W (p.Cys22Trp) variant of ALDH5A1 (P51649)
C22W (p.Cys22Trp) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
C22W (p.Cys22Trp) variant details
- p.Cys22Trp
- gnomAD 6-24495062-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.19
- MetaLR 0.14
- MetaSVM -0.87
- CADD 15.20
- PolyPhen-2 0.08
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available