G324V (p.Gly324Val) variant of ASS1 (Argininosuccinate synthase)
G324V (p.Gly324Val) 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 type I; Citrullinemia. 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.
G324V (p.Gly324Val) variant details
- p.Gly324Val
- rs1554725034
- ClinGen CA375231775
- ClinVar RCV002231278
- ClinVar RCV003459204
- Pathogenic/Likely pathogenic
- Citrullinemia type I; Citrullinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- REVEL 0.99
- CADD 34.00
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.38
- ClinVar: Pathogenic/Likely pathogenic (Citrullinemia type I; Citrullinemia)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene. (PMID 19006241)
- Cited in: Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural… (PMID 28111830)