R13Q (p.Arg13Gln) variant of ALDH5A1 (P51649)
R13Q (p.Arg13Gln) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
R13Q (p.Arg13Gln) variant details
- p.Arg13Gln
- ExAC rs111455631
- TOPMed rs111455631
- gnomAD rs111455631
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.11
- MetaLR 0.06
- MetaSVM -1.01
- CADD 2.09
- PolyPhen-2 0.00
- SIFT 0.57
- Population evidence available
- Structural context available