T3I (p.Thr3Ile) variant of ALDH5A1 (P51649)
T3I (p.Thr3Ile) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
T3I (p.Thr3Ile) variant details
- p.Thr3Ile
- gnomAD 6-24495004-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.27
- CADD 19.20
- PolyPhen-2 0.20
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available