R1453Q (p.Arg1453Gln) variant of CPS1 (P31327)
R1453Q (p.Arg1453Gln) in CPS1 (P31327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R1453Q (p.Arg1453Gln) variant details
- p.Arg1453Gln
- rs1559142152
- ClinGen CA350441056
- NCI-TCGA Cosmic COSV5180
- cosmic curated COSV51805
- Likely pathogenic
- Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibil
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.93
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely 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: Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based… (PMID 20578160)
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)