C223R (p.Cys223Arg) variant of ALDH5A1 (P51649)
C223R (p.Cys223Arg) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Succinate-semialdehyde dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
C223R (p.Cys223Arg) variant details
- p.Cys223Arg
- rs1380589911
- ClinGen CA362970091
- ClinVar RCV002510251
- ClinVar RCV002571583
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.87
- CADD 27.10
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Succinate-semialdehyde dehydrogenase de)
- EBI: Pathogenic (in SSADHD)
- UniProt: Pathogenic (in SSADHD)
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)