R27C (p.Arg27Cys) variant of ALDH5A1 (P51649)
R27C (p.Arg27Cys) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R27C (p.Arg27Cys) variant details
- p.Arg27Cys
- rs779798309
- ClinGen CA362968191
- ClinVar RCV001894592
- 1000Genomes rs779798309
- Uncertain significance
- Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.19
- MetaLR 0.13
- MetaSVM -0.94
- CADD 11.20
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (Succinate-semialdehyde dehydrogenase deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- 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)