A1378T (p.Ala1378Thr) variant of CPS1 (P31327)
A1378T (p.Ala1378Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
A1378T (p.Ala1378Thr) variant details
- p.Ala1378Thr
- rs1245373037
- ClinGen CA350440192
- ClinVar RCV003468545
- UniProt VAR 066169
- Likely pathogenic
- Pulmonary hypertension, neonatal, susceptibility to
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.76
- CADD 28.00
- ClinVar: Likely pathogenic (Pulmonary hypertension, neonatal, susceptibility to)
- EBI: Pathogenic (in CPS1D)
- UniProt: Pathogenic (in CPS1D)
- Most common in the HGDP:ADYGEI population (allele frequency 0.029)
- Structural context available
- Cited in: The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate… (PMID 16737834)
- Cited in: Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key… (PMID 23649895)