G29V (p.Gly29Val) variant of ALDH5A1 (P51649)
G29V (p.Gly29Val) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G29V (p.Gly29Val) variant details
- p.Gly29Val
- gnomAD 6-24495082-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.14
- MetaLR 0.11
- MetaSVM -1.07
- CADD 13.80
- PolyPhen-2 0.01
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available