A28V (p.Ala28Val) variant of ALDH5A1 (P51649)
A28V (p.Ala28Val) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- gnomAD 6-24495079-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.19
- MetaLR 0.14
- MetaSVM -0.92
- CADD 13.20
- PolyPhen-2 0.01
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available