D914H (p.Asp914His) variant of CPS1 (P31327)
D914H (p.Asp914His) 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; Congenital hyperammonemia. 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.
D914H (p.Asp914His) variant details
- p.Asp914His
- rs765484849
- ClinGen CA2086734
- ClinVar RCV000671041
- ClinVar RCV003465506
- Pathogenic/Likely pathogenic
- Pulmonary hypertension, neonatal, susceptibility to; Congenital hyperammonemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.98
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Pulmonary hypertension, neonatal, susceptibility to; Congenital)
- EBI: Pathogenic (in CPS1D)
- UniProt: Pathogenic (in CPS1D)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure… (PMID 21120950)
- Cited in: Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme… (PMID 24813853)