R803S (p.Arg803Ser) variant of CPS1 (P31327)
R803S (p.Arg803Ser) in CPS1 (P31327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibil. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R803S (p.Arg803Ser) variant details
- p.Arg803Ser
- rs201716417
- ClinGen CA312397
- NCI-TCGA Cosmic COSV5181
- Conflicting interpretations
- Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibil
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.93
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Congenital hyperammonemia, type I; Pulmonary hypertension, neona)
- EBI: Pathogenic (in CPS1D)
- UniProt: Pathogenic (in CPS1D)
- Most common in the African/African-American population (allele frequency 9.7e-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)