K310Q (p.Lys310Gln) variant of ASS1 (Argininosuccinate synthase)
K310Q (p.Lys310Gln) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Citrullinemia; Citrullinemia type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
K310Q (p.Lys310Gln) variant details
- p.Lys310Gln
- rs121908648
- ClinGen CA253841
- ClinVar RCV000006711
- ClinVar RCV002512848
- Likely pathogenic
- Citrullinemia; Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.98
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Citrullinemia; Citrullinemia type I)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38… (PMID 12815590)
- Cited in: Pregnancy in a healthy woman with untreated citrullinemia. (PMID 15266621)