N716K (p.Asn716Lys) variant of CPS1 (P31327)
N716K (p.Asn716Lys) in CPS1 (P31327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibil. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
N716K (p.Asn716Lys) variant details
- p.Asn716Lys
- rs369061090
- ClinGen CA2086555
- ClinVar RCV000344019
- ClinVar RCV000667844
- Pathogenic
- Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibil
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.87
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Congenital hyperammonemia, type I; Pulmonary hypertension, neona)
- EBI: Pathogenic (in CPS1D)
- UniProt: Pathogenic (in CPS1D)
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available
- Cited in: The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate… (PMID 16737834)
- Cited in: Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts. (PMID 11388595)