P20L (p.Pro20Leu) variant of ALDH5A1 (P51649)
P20L (p.Pro20Leu) 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 and structural context.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- Ensembl rs1270587368
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.20
- MetaLR 0.14
- MetaSVM -0.92
- CADD 9.85
- PolyPhen-2 0.00
- SIFT 0.39
- Population evidence available
- Structural context available