R14S (p.Arg14Ser) variant of ALDH5A1 (P51649)
R14S (p.Arg14Ser) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R14S (p.Arg14Ser) variant details
- p.Arg14Ser
- ExAC rs759844054
- TOPMed rs759844054
- gnomAD rs759844054
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.22
- MetaLR 0.14
- MetaSVM -0.85
- CADD 17.40
- PolyPhen-2 0.10
- SIFT 0.17
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available