A2T (p.Ala2Thr) variant of ALDH5A1 (P51649)
A2T (p.Ala2Thr) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 6-24495000-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.17
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available