A438P (p.Ala438Pro) variant of CPS1 (P31327)
A438P (p.Ala438Pro) 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.
A438P (p.Ala438Pro) variant details
- p.Ala438Pro
- rs772497399
- ClinGen CA350433135
- cosmic curated COSV51804
- ClinVar RCV000520090
- Likely pathogenic
- Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibil
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.96
- CADD 28.30
- 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: Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency. (PMID 17310273)
- Cited in: Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key… (PMID 23649895)