I5T (p.Ile5Thr) variant of ALDH5A1 (P51649)
I5T (p.Ile5Thr) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
I5T (p.Ile5Thr) variant details
- p.Ile5Thr
- gnomAD 6-24495010-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.18
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available