PFAS F481Y - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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(PFAS Phe481Tyr)

Short summary


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


Insufficiently evaluated not reviewed

(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

  • A @ chr17:8166458: 5.3% (565/10758) in EVS
  • A @ chr17:8107182: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 5.3% (565/10758)







huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr17:8166458


GS07357 - var-GS07357-1100-36-ASM
het A @ chr17:8107183


Other external references

  • rs35217368
    Web search results (4 hits -- see all)
  • PFAS Gene - GeneCards | PUR4 Protein | PUR4 Antibody
    EntrezGene summary for PFAS: Purines are necessary for many cellular processes, including ... PFAS Gene in genomic location: bands according to Ensembl, locations ...
  • Phosphoribosylformylglycinamidine synthase - Homo sapiens (Human)
    Enter your search text here. Enter your search query here. Reset button ... PFAS. Synonyms: KIAA0361. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ...
  • UniProt: O15067
    DT 05-MAY-2009, sequence version 3. DT 20-APR-2010, entry version 98. DE RecName: ... ribotide synthetase; GN Name=PFAS; Synonyms=KIAA0361; OS Homo sapiens ...

Other in silico analyses

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 1

Edit history

Gene search

"GENE" or "GENE A123C":

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