C4R (p.Cys4Arg) variant of ALDH5A1 (P51649)
C4R (p.Cys4Arg) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
C4R (p.Cys4Arg) variant details
- p.Cys4Arg
- gnomAD 6-24495006-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.35
- CADD 22.80
- PolyPhen-2 0.07
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available