R14H (p.Arg14His) variant of ALDH5A1 (P51649)
R14H (p.Arg14His) 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.
R14H (p.Arg14His) variant details
- p.Arg14His
- gnomAD 6-24495037-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.20
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available