T18R (p.Thr18Arg) variant of ALDH5A1 (P51649)
T18R (p.Thr18Arg) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
T18R (p.Thr18Arg) variant details
- p.Thr18Arg
- gnomAD 6-24495049-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.11
- MetaLR 0.09
- MetaSVM -1.05
- CADD 5.36
- PolyPhen-2 0.00
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available