C4Y (p.Cys4Tyr) variant of ALDH5A1 (P51649)
C4Y (p.Cys4Tyr) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
C4Y (p.Cys4Tyr) variant details
- p.Cys4Tyr
- cosmic curated COSV62372
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.41
- MetaLR 0.21
- MetaSVM -0.50
- CADD 23.40
- PolyPhen-2 0.20
- SIFT 0.01
- Population evidence available
- Structural context available