C22G (p.Cys22Gly) variant of ALDH5A1 (P51649)
C22G (p.Cys22Gly) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
C22G (p.Cys22Gly) variant details
- p.Cys22Gly
- gnomAD 6-24495060-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.13
- MetaLR 0.08
- MetaSVM -1.04
- CADD 7.59
- PolyPhen-2 0.00
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available