S1203P (p.Ser1203Pro) variant of CPS1 (P31327)
S1203P (p.Ser1203Pro) 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; not provided; Congenital hy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
S1203P (p.Ser1203Pro) variant details
- p.Ser1203Pro
- rs1319489001
- ClinGen CA350437795
- ClinVar RCV001378075
- ClinVar RCV004570926
- Pathogenic/Likely pathogenic
- Pulmonary hypertension, neonatal, susceptibility to; not provided; Congenital hy
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.98
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Pulmonary hypertension, neonatal, susceptibility to; not provide)
- EBI: Pathogenic (in CPS1D)
- UniProt: Pathogenic (in CPS1D)
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- Structural context available
- Cited in: The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate… (PMID 16737834)
- Cited in: Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts. (PMID 11388595)