N335K (p.Asn335Lys) variant of ALDH5A1 (P51649)
N335K (p.Asn335Lys) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
N335K (p.Asn335Lys) variant details
- p.Asn335Lys
- rs72552283
- ClinGen CA136134666
- ClinVar RCV002510527
- UniProt VAR 026205
- Likely pathogenic
- Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.86
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (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)