R803C (p.Arg803Cys) variant of CPS1 (P31327)
R803C (p.Arg803Cys) in CPS1 (P31327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Pulmonary hypertension, neonatal, susceptibility to; not specified; Congenital h. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R803C (p.Arg803Cys) variant details
- p.Arg803Cys
- rs201716417
- ClinGen CA2086634
- cosmic curated COSV51810
- ClinVar RCV000552829
- Conflicting interpretations
- Pulmonary hypertension, neonatal, susceptibility to; not specified; Congenital h
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.94
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Pulmonary hypertension, neonatal, susceptibility to; not specifi)
- EBI: Pathogenic (in CPS1D)
- UniProt: Pathogenic (in CPS1D)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)