PAH R176Q - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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(PAH Arg176Gln)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.


Desviat LR, Pérez B, Gámez A, Sánchez A, García MJ, Martínez-Pardo M, Marchante C, Bóveda D, Baldellou A, Arena J, Sanjurjo P, Fernández A, Cabello ML, Ugarte M. Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions. Eur J Hum Genet. 1999 Apr;7(3):386-92. PubMed PMID: 10234516.

This variant is implicated in autosomal recessive mild hyperphenylalaninemia in 8.6% of 93 patients as a compound heterozygote in Spain.


Other external references

  • Score: 0.176 (benign)
    Web search results (6 hits -- see all)
  • Genotype/Phenotype
    PAHdb Advanced Search ... R176Q. R169H. P281L. R176Q. R158Q. R261Q. C284R. R297C. Y356X. R408W. EX3del4765. Y343D. Y343D [p.E56E;IVS2+1G>A] p.E280K. Go to Top. Copyright 2007 Debelle ...
  • Type II- 97%
    ... mildly unstable, dbSNP:rs34948328) PAH P00439 R261Q 268 VAR_000965 ... CCNYL2 Q5T2Q4 R176Q 183 VAR_037298 PDGFR (0.556) Polymorphism (dbSNP:rs2489720) SERPINF2 P08697 R434K 439 ...
  • Type II- 95%
    ... CAMKL (0.599) XCNM 12522554 PAH P00439 L212P 206 VAR_000929 PDGFR (0. ... PIKK (0.508) Montechiaro 17145605 CCNYL2 Q5T2Q4 R176Q 183 VAR_037298 PDGFR (0.556) Polymorphism (dbSNP: ...
  • Steroidogenic adrenocortical cell lines produced by ...
    Steroidogenic adrenocortical cell lines produced by genetically targeted tumorigenesis in ... human fibroblast growth factor 23 (R176Q) delineate a putat. Endocrinology Oct 18, ...

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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