R25C (p.Arg25Cys) variant of ALDH5A1 (P51649)
R25C (p.Arg25Cys) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R25C (p.Arg25Cys) variant details
- p.Arg25Cys
- gnomAD 6-24495069-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.21
- MetaLR 0.13
- MetaSVM -0.94
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available