C223Y (p.Cys223Tyr) variant of ALDH5A1 (P51649)
C223Y (p.Cys223Tyr) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
C223Y (p.Cys223Tyr) variant details
- p.Cys223Tyr
- rs72552282
- ClinGen CA136128330
- ClinVar RCV000523906
- ClinVar RCV002509419
- Pathogenic
- not provided; Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.81
- AlphaMissense 0.96
- MetaLR 0.79
- MetaSVM 0.90
- CADD 26.90
- PolyPhen-2 1.00
- 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)