A118T (p.Ala118Thr) variant of ASS1 (Argininosuccinate synthase)
A118T (p.Ala118Thr) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Citrullinemia; Inborn genetic diseases; Citrullinemia type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A118T (p.Ala118Thr) variant details
- p.Ala118Thr
- rs775305020
- ClinGen CA5283236
- cosmic curated COSV61689
- ClinVar RCV001004329
- Pathogenic
- Citrullinemia; Inborn genetic diseases; Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.89
- CADD 23.20
- PolyPhen-2 0.13
- SIFT 0.09
- ClinVar: Pathogenic (Citrullinemia; Inborn genetic diseases; Citrullinemia type I)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Investigation of citrullinemia type I variants by in vitro expression studies. (PMID 18473344)
- Cited in: Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate… (PMID 27287393)