T3A (p.Thr3Ala) variant of ALDH5A1 (P51649)
T3A (p.Thr3Ala) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
T3A (p.Thr3Ala) variant details
- p.Thr3Ala
- gnomAD 6-24495003-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.14
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available