E231K (p.Glu231Lys) variant of ALDH5A1 (P51649)
E231K (p.Glu231Lys) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ALDH5A1-related disorder; not provided; Succinate-semialdehyde dehydrogenase def. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
E231K (p.Glu231Lys) variant details
- p.Glu231Lys
- rs751888532
- ClinGen CA3656693
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10070
- Pathogenic/Likely pathogenic
- ALDH5A1-related disorder; not provided; Succinate-semialdehyde dehydrogenase def
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.69
- CADD 25.10
- PolyPhen-2 0.09
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (ALDH5A1-related disorder; not provided; Succinate-semialdehyde d)
- EBI: Pathogenic
- UniProt: 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)