P229T (p.Pro229Thr) variant of ALDH5A1 (P51649)
P229T (p.Pro229Thr) 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 0.81 / 1. The record also includes published literature and structural context.
P229T (p.Pro229Thr) variant details
- p.Pro229Thr
- rs1759309075
- ClinGen CA362970128
- ClinVar RCV002825712
- TOPMed rs1759309075
- Uncertain significance
- Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- AlphaMissense 0.68
- MetaLR 0.78
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.03
- MutPred 0.90
- ClinVar: Uncertain significance (Succinate-semialdehyde dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)