C10W (p.Cys10Trp) variant of ALDH5A1 (P51649)
C10W (p.Cys10Trp) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
C10W (p.Cys10Trp) variant details
- p.Cys10Trp
- gnomAD 6-24495026-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.17
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available