C4F (p.Cys4Phe) variant of ALDH5A1 (P51649)
C4F (p.Cys4Phe) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
C4F (p.Cys4Phe) variant details
- p.Cys4Phe
- gnomAD 6-24495007-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.42
- CADD 23.50
- PolyPhen-2 0.20
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available