R850C (p.Arg850Cys) variant of CPS1 (P31327)
R850C (p.Arg850Cys) 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; Hereditary breast ovarian c. 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.
R850C (p.Arg850Cys) variant details
- p.Arg850Cys
- rs1015051007
- ClinGen CA64765687
- ClinVar RCV002651594
- ClinVar RCV004540597
- Pathogenic/Likely pathogenic
- Pulmonary hypertension, neonatal, susceptibility to; Hereditary breast ovarian c
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.99
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Pulmonary hypertension, neonatal, susceptibility to; Hereditary)
- EBI: Pathogenic (in CPS1D)
- UniProt: Pathogenic (in CPS1D)
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency. (PMID 17310273)
- Cited in: Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme… (PMID 24813853)