R850H (p.Arg850His) variant of CPS1 (P31327)
R850H (p.Arg850His) in CPS1 (P31327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibil. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R850H (p.Arg850His) variant details
- p.Arg850His
- rs767694281
- ClinGen CA2086666
- ClinVar RCV000816596
- ClinVar RCV003467478
- Pathogenic
- Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibil
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.99
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Pathogenic (Congenital hyperammonemia, type I; Pulmonary hypertension, neona)
- EBI: Pathogenic (in CPS1D)
- UniProt: Pathogenic (in CPS1D)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients. (PMID 15617192)
- Cited in: Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure… (PMID 21120950)