K85* (p.Lys85Ter) variant of PAH (Phenylalanine-4-hydroxylase)
K85* (p.Lys85Ter) 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.
K85* (p.Lys85Ter) variant details
- p.Lys85Ter
- rs1877430029
- ClinGen CA16020757
- ClinVar RCV001199993
- Ensembl rs1877430029
- 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)