V457G (p.Val457Gly) variant of CPS1 (P31327)
V457G (p.Val457Gly) in CPS1 (P31327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
V457G (p.Val457Gly) variant details
- p.Val457Gly
- rs371350538
- ClinGen CA2086356
- ClinVar RCV001956334
- ClinVar RCV003471189
- Pathogenic/Likely pathogenic
- Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibil
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.97
- CADD 27.80
- PolyPhen-2 0.72
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Congenital hyperammonemia, type I; Pulmonary hypertension, neona)
- EBI: Pathogenic (in CPS1D)
- UniProt: Pathogenic (in CPS1D)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel… (PMID 12955727)
- Cited in: Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts. (PMID 11388595)