E43* (p.Glu43Ter) variant of PAH (Phenylalanine-4-hydroxylase)
E43* (p.Glu43Ter) in PAH (Phenylalanine-4-hydroxylase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
E43* (p.Glu43Ter) variant details
- p.Glu43Ter
- rs1555209575
- ClinGen CA16020729
- ClinVar RCV000673220
- Ensembl rs1555209575
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)