Y24* (p.Tyr24Ter) variant of PAH (Phenylalanine-4-hydroxylase)
Y24* (p.Tyr24Ter) 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.
Y24* (p.Tyr24Ter) variant details
- p.Tyr24Ter
- rs2136728385
- ClinGen CA386302770
- ClinVar RCV003476585
- 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)