R1453W (p.Arg1453Trp) variant of CPS1 (P31327)
R1453W (p.Arg1453Trp) in CPS1 (P31327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R1453W (p.Arg1453Trp) variant details
- p.Arg1453Trp
- rs933813349
- ClinGen CA64748170
- NCI-TCGA Cosmic COSV5180
- cosmic curated COSV51806
- Pathogenic/Likely pathogenic
- Pulmonary hypertension, neonatal, susceptibility to; Congenital hyperammonemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.86
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Pulmonary hypertension, neonatal, susceptibility to; Congenital)
- EBI: Pathogenic (in CPS1D)
- UniProt: Pathogenic (in CPS1D)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based… (PMID 20578160)
- Cited in: Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure… (PMID 21120950)