Y77* (p.Tyr77Ter) variant of PAH (Phenylalanine-4-hydroxylase)
Y77* (p.Tyr77Ter) in PAH (Phenylalanine-4-hydroxylase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes population frequency data, published literature, and structural context.
Y77* (p.Tyr77Ter) variant details
- p.Tyr77Ter
- rs62507332
- ClinGen CA229493
- ClinVar RCV000088879
- ClinVar RCV003479001
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)