R587L (p.Arg587Leu) variant of CPS1 (P31327)
R587L (p.Arg587Leu) in CPS1 (P31327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R587L (p.Arg587Leu) variant details
- p.Arg587Leu
- gnomAD rs1553512642
- UniProt VAR 066196
- Likely pathogenic
- Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibil
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.96
- CADD 29.60
- ClinVar: Likely pathogenic (Congenital hyperammonemia, type I; Pulmonary hypertension, neona)
- EBI: Pathogenic (in CPS1D)
- UniProt: Pathogenic (in CPS1D)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure… (PMID 21120950)
- Cited in: Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts. (PMID 11388595)