L50P (p.Leu50Pro) variant of CPS1 (P31327)
L50P (p.Leu50Pro) 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. The record also includes published literature and structural context.
L50P (p.Leu50Pro) variant details
- p.Leu50Pro
- rs2469077959
- ClinGen CA350421609
- ClinVar RCV003110198
- Likely pathogenic
- Congenital hyperammonemia, type I
- Missense
- ClinVar: Likely pathogenic (Congenital hyperammonemia, type I)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)