E44* (p.Glu44Ter) variant of PAH (Phenylalanine-4-hydroxylase)
E44* (p.Glu44Ter) in PAH (Phenylalanine-4-hydroxylase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
E44* (p.Glu44Ter) variant details
- p.Glu44Ter
- rs2499542475
- ClinVar RCV004574421
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)