Q20* (p.Gln20Ter) variant of PAH (Phenylalanine-4-hydroxylase)
Q20* (p.Gln20Ter) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
Q20* (p.Gln20Ter) variant details
- p.Gln20Ter
- rs199475585
- ClinGen CA229635
- ClinVar RCV000088993
- ClinVar RCV000169450
- Pathogenic
- in PAH deficiency
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.874
- CADD 43.00
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)