C531R (p.Cys531Arg) variant of ALDH5A1 (P51649)
C531R (p.Cys531Arg) 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.
C531R (p.Cys531Arg) variant details
- p.Cys531Arg
- rs2127391249
- ClinGen CA362967965
- ClinVar RCV001362658
- Ensembl rs2127391249
- Uncertain significance
- Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- AlphaMissense 0.75
- MetaLR 0.77
- MetaSVM 0.72
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.67
- 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)