PAH A403V - GET-Evidence

Curation:
Currentness:

PAH A403V

(PAH Ala403Val)


Short summary

Reported to cause phenylketonuria, as recorded in ClinVar by three different genetic testing groups (Emory Genetics Lab, Counsyl, and Partners LMM): http://www.ncbi.nlm.nih.gov/clinvar/RCV000150075/ This effect seems to be well-supported in literature, e.g. Daniele et al 2007 (PMID: 17096675) report this variant accounting for 11.6% of disease-causing variants in patients studied in Southern Italy.

Variant evidence
Computational 2

other variants in this gene cause this disease, allele frequency consistent

Functional -
Case/Control 5
Familial -
 
Clinical importance
Severity 4
Treatability 5
Penetrance 5
 

Impact

High clinical importance, Likely pathogenic

(The "high clinical importance, likely" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

recessive

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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