E298K (p.Glu298Lys) variant of ASS1 (Argininosuccinate synthase)
E298K (p.Glu298Lys) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Citrullinemia type I; Citrullinemia; Cardiac arrhythmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
E298K (p.Glu298Lys) variant details
- p.Glu298Lys
- rs1372482894
- ClinGen CA375230556
- cosmic curated COSV61690
- ClinVar RCV001972104
- Likely pathogenic
- Citrullinemia type I; Citrullinemia; Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.94
- CADD 24.00
- PolyPhen-2 0.22
- SIFT 0.05
- ClinVar: Likely pathogenic (Citrullinemia type I; Citrullinemia; Cardiac arrhythmia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Citrullinemia Type I. (PMID 20301631)