R780H (p.Arg780His) variant of CPS1 (P31327)
R780H (p.Arg780His) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R780H (p.Arg780His) variant details
- p.Arg780His
- rs758724746
- ClinGen CA2086609
- NCI-TCGA Cosmic COSV5180
- cosmic curated COSV51807
- Pathogenic/Likely pathogenic
- Pulmonary hypertension, neonatal, susceptibility to; not provided; Congenital hy
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.86
- CADD 31.00
- PolyPhen-2 0.94
- 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 South Asian population (allele frequency 3.5e-05)
- Structural context available
- Cited in: Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency. (PMID 17310273)
- Cited in: Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure… (PMID 21120950)