S913L (p.Ser913Leu) variant of CPS1 (P31327)
S913L (p.Ser913Leu) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
S913L (p.Ser913Leu) variant details
- p.Ser913Leu
- rs754706559
- ClinGen CA2086733
- ClinVar RCV000674444
- ClinVar RCV005027827
- Likely pathogenic
- Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibil
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.95
- AlphaMissense 0.66
- MetaLR 0.97
- MetaSVM 1.09
- CADD 27.70
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Congenital hyperammonemia, type I; Pulmonary hypertension, neona)
- EBI: Pathogenic (in CPS1D)
- UniProt: Pathogenic (in CPS1D)
- Most common in the South Asian population (allele frequency 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)