S9R (p.Ser9Arg) variant of ALDH5A1 (P51649)
S9R (p.Ser9Arg) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Succinate-semialdehyde dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
S9R (p.Ser9Arg) variant details
- p.Ser9Arg
- TOPMed rs1390389121
- gnomAD rs1390389121
- Uncertain significance
- Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.20
- MetaLR 0.10
- MetaSVM -1.00
- CADD 13.70
- PolyPhen-2 0.04
- SIFT 0.21
- ClinVar: Uncertain significance (Succinate-semialdehyde dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available