P20R (p.Pro20Arg) variant of ALDH5A1 (P51649)
P20R (p.Pro20Arg) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P20R (p.Pro20Arg) variant details
- p.Pro20Arg
- gnomAD 6-24495055-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.25
- MetaLR 0.15
- MetaSVM -0.88
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available