G14S (p.Gly14Ser) variant of ASS1 (Argininosuccinate synthase)
G14S (p.Gly14Ser) 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; not provided; Citrullinemia type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G14S (p.Gly14Ser) variant details
- p.Gly14Ser
- rs121908636
- ClinGen CA253829
- cosmic curated COSV61689
- ClinVar RCV000006696
- Pathogenic/Likely pathogenic
- Citrullinemia; not provided; Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.97
- CADD 29.30
- PolyPhen-2 0.80
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Citrullinemia; not provided; Citrullinemia type I)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available
- Cited in: Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type… (PMID 14680976)
- Cited in: Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia. (PMID 2358466)