K9* (p.Lys9Ter) variant of CPS1 (P31327)
K9* (p.Lys9Ter) in CPS1 (P31327) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
K9* (p.Lys9Ter) variant details
- p.Lys9Ter
- rs1553507167
- ClinGen CA350432262
- ClinVar RCV000673929
- Ensembl rs1553507167
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.449
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)