V487E (p.Val487Glu) variant of ALDH5A1 (P51649)
V487E (p.Val487Glu) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Succinate-semialdehyde dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
V487E (p.Val487Glu) variant details
- p.Val487Glu
- rs1581827709
- ClinGen CA362967501
- ClinVar RCV002510540
- UniProt VAR 026209
- Likely pathogenic
- Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- AlphaMissense 0.28
- MetaLR 0.55
- MetaSVM 0.18
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.68
- ClinVar: Likely pathogenic (Succinate-semialdehyde dehydrogenase deficiency)
- EBI: Pathogenic (in SSADHD)
- UniProt: Pathogenic (in SSADHD)
- Structural context available
- Cited in: Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with… (PMID 11901270)
- Cited in: Succinic Semialdehyde Dehydrogenase Deficiency. (PMID 20301374)