R23H (p.Arg23His) variant of ALDH5A1 (P51649)
R23H (p.Arg23His) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
R23H (p.Arg23His) variant details
- p.Arg23His
- TOPMed rs986991035
- gnomAD rs986991035
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.15
- MetaLR 0.13
- MetaSVM -0.96
- CADD 9.24
- PolyPhen-2 0.00
- SIFT 0.56
- Population evidence available
- Structural context available