T423A (p.Thr423Ala) variant of ALDH5A1 (P51649)
T423A (p.Thr423Ala) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Succinate-semialdehyde dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
T423A (p.Thr423Ala) variant details
- p.Thr423Ala
- rs1759856050
- ClinGen CA362978548
- ClinVar RCV002510533
- Ensembl rs1759856050
- Conflicting interpretations
- Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.93
- AlphaMissense 0.17
- MetaLR 0.61
- MetaSVM 0.36
- CADD 27.00
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Succinate-semialdehyde dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Succinic Semialdehyde Dehydrogenase Deficiency. (PMID 20301374)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)