R814W (p.Arg814Trp) variant of CPS1 (P31327)
R814W (p.Arg814Trp) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R814W (p.Arg814Trp) variant details
- p.Arg814Trp
- rs772782772
- ClinGen CA2086638
- NCI-TCGA Cosmic COSV9924
- cosmic curated COSV99242
- Pathogenic/Likely pathogenic
- Pulmonary hypertension, neonatal, susceptibility to; Congenital hyperammonemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.88
- CADD 24.20
- 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 South Asian population (allele frequency 1.2e-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)