E270Q (p.Glu270Gln) variant of ASS1 (Argininosuccinate synthase)
E270Q (p.Glu270Gln) 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 not provided; Citrullinemia; Glycogen storage disease due to glucose-6-phosphata. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
E270Q (p.Glu270Gln) variant details
- p.Glu270Gln
- rs775163147
- ClinGen CA5283535
- ClinVar RCV000673280
- ClinVar RCV002221574
- Pathogenic/Likely pathogenic
- not provided; Citrullinemia; Glycogen storage disease due to glucose-6-phosphata
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Citrullinemia; Glycogen storage disease due to glu)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Phenotype and genotype heterogeneity in Mediterranean citrullinemia. (PMID 11708871)
- Cited in: Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in… (PMID 16475226)