R803G (p.Arg803Gly) variant of CPS1 (P31327)
R803G (p.Arg803Gly) in CPS1 (P31327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R803G (p.Arg803Gly) variant details
- p.Arg803Gly
- rs201716417
- ClinGen CA2086633
- ClinVar RCV000813104
- ClinVar RCV002495136
- Pathogenic/Likely pathogenic
- Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibil
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.95
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Congenital hyperammonemia, type I; Pulmonary hypertension, neona)
- EBI: Pathogenic (in CPS1D)
- UniProt: Pathogenic (in CPS1D)
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available
- Cited in: Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure… (PMID 21120950)
- Cited in: Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian… (PMID 26440671)