R14C (p.Arg14Cys) variant of ALDH5A1 (P51649)
R14C (p.Arg14Cys) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R14C (p.Arg14Cys) variant details
- p.Arg14Cys
- gnomAD 6-24495036-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.29
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available