K280N (p.Lys280Asn) variant of CPS1 (P31327)
K280N (p.Lys280Asn) in CPS1 (P31327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pulmonary hypertension, neonatal, susceptibility to; Congenital hyperammonemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
K280N (p.Lys280Asn) variant details
- p.Lys280Asn
- rs753751183
- ClinGen CA350430017
- ClinVar RCV000002519
- ClinVar RCV003466783
- Likely pathogenic
- Pulmonary hypertension, neonatal, susceptibility to; Congenital hyperammonemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.48
- CADD 34.00
- PolyPhen-2 0.16
- SIFT 0.16
- ClinVar: Likely pathogenic (Pulmonary hypertension, neonatal, susceptibility to; Congenital)
- EBI: Pathogenic (in CPS1D)
- UniProt: Pathogenic (in CPS1D)
- 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: Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair… (PMID 8486760)