C22F (p.Cys22Phe) variant of ALDH5A1 (P51649)
C22F (p.Cys22Phe) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
C22F (p.Cys22Phe) variant details
- p.Cys22Phe
- gnomAD 6-24495061-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.19
- MetaLR 0.11
- MetaSVM -0.96
- CADD 14.00
- PolyPhen-2 0.01
- SIFT 0.70
- Population evidence available
- Structural context available
- Literature evidence available