K118N (p.Lys118Asn) variant of ALDH5A1 (P51649)
K118N (p.Lys118Asn) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Succinate-semialdehyde dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
K118N (p.Lys118Asn) variant details
- p.Lys118Asn
- rs1444826704
- ClinGen CA362968752
- ClinVar RCV002510490
- gnomAD rs1444826704
- Likely pathogenic
- Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.55
- MetaLR 0.56
- MetaSVM 0.24
- CADD 35.00
- PolyPhen-2 0.51
- SIFT 0.03
- ClinVar: Likely pathogenic (Succinate-semialdehyde dehydrogenase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)