E191Q (p.Glu191Gln) variant of ASS1 (Argininosuccinate synthase)
E191Q (p.Glu191Gln) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Citrullinemia; Citrullinemia type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
E191Q (p.Glu191Gln) variant details
- p.Glu191Gln
- rs777828000
- ClinGen CA375227456
- ClinVar RCV003472922
- ClinVar RCV003594697
- Pathogenic/Likely pathogenic
- Citrullinemia; Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.96
- CADD 28.50
- PolyPhen-2 0.62
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Citrullinemia; Citrullinemia type I)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene. (PMID 19006241)
- Cited in: Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate… (PMID 27287393)