A12T (p.Ala12Thr) variant of ALDH5A1 (P51649)
A12T (p.Ala12Thr) 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.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- gnomAD 6-24495030-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.18
- CADD 14.50
- PolyPhen-2 0.09
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available