V263M (p.Val263Met) variant of ASS1 (Argininosuccinate synthase)
V263M (p.Val263Met) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Citrullinemia; not provided; 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.
V263M (p.Val263Met) variant details
- p.Val263Met
- rs192838388
- ClinGen CA266753
- cosmic curated COSV10075
- ClinVar RCV000078024
- Pathogenic
- Citrullinemia; not provided; Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.93
- CADD 29.90
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic (Citrullinemia; not provided; Citrullinemia type I)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available
- Cited in: Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type… (PMID 14680976)
- Cited in: Investigation of citrullinemia type I variants by in vitro expression studies. (PMID 18473344)