N255D (p.Asn255Asp) variant of ALDH5A1 (P51649)
N255D (p.Asn255Asp) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Succinate-semialdehyde dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
N255D (p.Asn255Asp) variant details
- p.Asn255Asp
- rs2127385854
- ClinGen CA362971605
- ClinVar RCV002510520
- Pathogenic
- Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.85
- AlphaMissense 0.42
- MetaLR 0.69
- MetaSVM 0.55
- CADD 24.50
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Succinate-semialdehyde dehydrogenase deficiency)
- EBI: Pathogenic (in SSADHD)
- UniProt: Pathogenic (in SSADHD)
- 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)