C22Y (p.Cys22Tyr) variant of ALDH5A1 (P51649)
C22Y (p.Cys22Tyr) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
C22Y (p.Cys22Tyr) variant details
- p.Cys22Tyr
- ExAC rs750114301
- TOPMed rs750114301
- gnomAD rs750114301
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.14
- MetaLR 0.10
- MetaSVM -0.95
- CADD 13.30
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available