G21C (p.Gly21Cys) variant of ALDH5A1 (P51649)
G21C (p.Gly21Cys) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G21C (p.Gly21Cys) variant details
- p.Gly21Cys
- gnomAD 6-24495057-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.32
- MetaLR 0.16
- MetaSVM -0.86
- CADD 20.80
- PolyPhen-2 0.34
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available