V500E (p.Val500Glu) variant of ALDH5A1 (P51649)
V500E (p.Val500Glu) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Succinate-semialdehyde dehydrogenase deficiency. The record also includes variant effect predictions and structural context.
V500E (p.Val500Glu) variant details
- p.Val500Glu
- ExAC rs756982283
- TOPMed rs756982283
- gnomAD rs756982283
- Likely pathogenic
- Succinate-semialdehyde dehydrogenase deficiency
- Missense
- MetaLR 0.31
- MetaSVM -0.27
- SIFT 1.00
- ClinVar: Likely pathogenic (Succinate-semialdehyde dehydrogenase deficiency)
- UniProt: Likely pathogenic
- Structural context available