R803H (p.Arg803His) variant of CPS1 (P31327)
R803H (p.Arg803His) 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; Congenital hyperammonemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
R803H (p.Arg803His) variant details
- p.Arg803His
- rs1406849327
- cosmic curated COSV51804
- gnomAD rs1406849327
- Likely pathogenic
- Pulmonary hypertension, neonatal, susceptibility to; Congenital hyperammonemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.95
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Pulmonary hypertension, neonatal, susceptibility to; Congenital)
- EBI: Likely pathogenic (in CPS1D)
- UniProt: Likely pathogenic (in CPS1D)
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available