C4S (p.Cys4Ser) variant of ALDH5A1 (P51649)
C4S (p.Cys4Ser) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
C4S (p.Cys4Ser) variant details
- p.Cys4Ser
- gnomAD 6-24495006-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.18
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available