Y959C (p.Tyr959Cys) variant of CPS1 (P31327)
Y959C (p.Tyr959Cys) 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; Congenital hyperammonemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
Y959C (p.Tyr959Cys) variant details
- p.Tyr959Cys
- rs1191587211
- ClinGen CA350431934
- ClinVar RCV003468523
- ClinVar RCV005030054
- Likely pathogenic
- Pulmonary hypertension, neonatal, susceptibility to; Congenital hyperammonemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.99
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Pulmonary hypertension, neonatal, susceptibility to; Congenital)
- EBI: Pathogenic (in CPS1D)
- UniProt: Pathogenic (in CPS1D)
- Most common in the Non-Finnish European population (allele frequency 1.4e-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)