K310R (p.Lys310Arg) variant of ASS1 (Argininosuccinate synthase)
K310R (p.Lys310Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
K310R (p.Lys310Arg) variant details
- p.Lys310Arg
- rs199751308
- ClinGen CA5283575
- ClinVar RCV000286574
- ClinVar RCV000413247
- Pathogenic/Likely pathogenic
- Citrullinemia; Citrullinemia type I; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.82
- CADD 23.50
- PolyPhen-2 0.96
- SIFT 1.00
- ClinVar: Pathogenic/Likely pathogenic (Citrullinemia; Citrullinemia type I; not provided)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Postpartum "psychosis" in mild argininosuccinate synthetase deficiency. (PMID 15863597)
- Cited in: Phenotype and genotype heterogeneity in Mediterranean citrullinemia. (PMID 11708871)