R174W (p.Arg174Trp) variant of CPS1 (P31327)
R174W (p.Arg174Trp) in CPS1 (P31327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pulmonary hypertension, neonatal, susceptibility to. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R174W (p.Arg174Trp) variant details
- p.Arg174Trp
- rs1553509661
- ClinGen CA350425926
- NCI-TCGA Cosmic COSV5182
- cosmic curated COSV51828
- Likely pathogenic
- Pulmonary hypertension, neonatal, susceptibility to
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.96
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Pulmonary hypertension, neonatal, susceptibility to)
- EBI: Likely pathogenic (in CPS1D)
- UniProt: Likely pathogenic (in CPS1D)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian… (PMID 26440671)
- Cited in: Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts. (PMID 11388595)