R23G (p.Arg23Gly) variant of ALDH5A1 (P51649)
R23G (p.Arg23Gly) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R23G (p.Arg23Gly) variant details
- p.Arg23Gly
- gnomAD 6-24495063-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.13
- MetaLR 0.10
- MetaSVM -0.99
- CADD 4.03
- PolyPhen-2 0.00
- SIFT 0.51
- Population evidence available
- Structural context available
- Literature evidence available