S918P (p.Ser918Pro) variant of CPS1 (P31327)
S918P (p.Ser918Pro) 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 0.59 / 1. The record also includes published literature and structural context.
S918P (p.Ser918Pro) variant details
- p.Ser918Pro
- rs1251772368
- ClinVar RCV004575677
- UniProt VAR 030676
- Likely pathogenic
- Pulmonary hypertension, neonatal, susceptibility to
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- AlphaMissense 0.45
- MetaLR 0.81
- MetaSVM 0.63
- PolyPhen-2 0.03
- SIFT 0.02
- EVE 0.18
- ClinVar: Likely pathogenic (Pulmonary hypertension, neonatal, susceptibility to)
- EBI: Pathogenic (in CPS1D)
- UniProt: Pathogenic (in CPS1D)
- Structural context available
- Cited in: Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients. (PMID 15617192)
- Cited in: Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme… (PMID 24813853)