R23C (p.Arg23Cys) variant of ALDH5A1 (P51649)
R23C (p.Arg23Cys) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
R23C (p.Arg23Cys) variant details
- p.Arg23Cys
- gnomAD 6-24495063-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.18
- MetaLR 0.10
- MetaSVM -0.98
- CADD 8.28
- PolyPhen-2 0.00
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available