G301E (p.Gly301Glu) variant of CPS1 (P31327)
G301E (p.Gly301Glu) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G301E (p.Gly301Glu) variant details
- p.Gly301Glu
- rs973321068
- ClinGen CA64740159
- ClinVar RCV000664568
- ClinVar RCV003465435
- Likely pathogenic
- Pulmonary hypertension, neonatal, susceptibility to; Congenital hyperammonemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.85
- CADD 26.10
- PolyPhen-2 0.76
- SIFT 0.00
- ClinVar: Likely pathogenic (Pulmonary hypertension, neonatal, susceptibility to; Congenital)
- EBI: Pathogenic (in CPS1D)
- UniProt: Pathogenic (in CPS1D)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)