G176R (p.Gly176Arg) variant of ALDH5A1 (P51649)
G176R (p.Gly176Arg) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Succinate-semialdehyde dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G176R (p.Gly176Arg) variant details
- p.Gly176Arg
- rs72552281
- ClinGen CA16604920
- ClinVar RCV000423242
- ClinVar RCV001064033
- Pathogenic
- not provided; Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.95
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Succinate-semialdehyde dehydrogenase deficiency)
- EBI: Pathogenic (in SSADHD)
- UniProt: Pathogenic (in SSADHD)
- Population evidence available
- Structural context available
- Cited in: Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel… (PMID 14635103)
- Cited in: Succinic Semialdehyde Dehydrogenase Deficiency. (PMID 20301374)