T18A (p.Thr18Ala) variant of ALDH5A1 (P51649)
T18A (p.Thr18Ala) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
T18A (p.Thr18Ala) variant details
- p.Thr18Ala
- gnomAD 6-24495048-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.07
- MetaLR 0.06
- MetaSVM -1.00
- CADD 5.38
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available