E76* (p.Glu76Ter) variant of PAH (Phenylalanine-4-hydroxylase)
E76* (p.Glu76Ter) in PAH (Phenylalanine-4-hydroxylase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PAH deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
E76* (p.Glu76Ter) variant details
- p.Glu76Ter
- rs762949770
- ClinGen CA16020752
- ClinVar RCV000590560
- ExAC rs762949770
- Pathogenic
- in PAH deficiency
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.748
- CADD 36.00
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)