Q44* (p.Gln44Ter) variant of CPS1 (P31327)
Q44* (p.Gln44Ter) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
Q44* (p.Gln44Ter) variant details
- p.Gln44Ter
- rs121912593
- ClinGen CA115527
- ClinVar RCV000002521
- ClinVar RCV004566674
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.749
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency. (PMID 17310273)
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)