P20T (p.Pro20Thr) variant of ALDH5A1 (P51649)
P20T (p.Pro20Thr) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P20T (p.Pro20Thr) variant details
- p.Pro20Thr
- gnomAD 6-24495054-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.22
- MetaLR 0.15
- MetaSVM -0.92
- CADD 11.10
- PolyPhen-2 0.01
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available