C19* (p.Cys19Ter) variant of ASS1 (Argininosuccinate synthase)
C19* (p.Cys19Ter) in ASS1 (Argininosuccinate synthase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CTLN1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
C19* (p.Cys19Ter) variant details
- p.Cys19Ter
- rs2490515237
- ClinGen CA375223569
- ClinVar RCV003593586
- Pathogenic
- in CTLN1
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.539
- CADD 36.00
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available