C22S (p.Cys22Ser) variant of ALDH5A1 (P51649)
C22S (p.Cys22Ser) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
C22S (p.Cys22Ser) variant details
- p.Cys22Ser
- gnomAD 6-24495061-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.14
- MetaLR 0.09
- MetaSVM -0.96
- CADD 12.10
- PolyPhen-2 0.00
- SIFT 0.50
- Population evidence available
- Structural context available
- Literature evidence available