PAICS S148C - 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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(PAICS Ser148Cys)

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

  • G @ chr4:57314612: 4.4% (424/9596) in EVS
  • Frequency shown in summary reports: 4.4% (424/9596)







Other external references

    Web search results (3 hits -- see all)
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: PAICS ... MutDB MutPred In Silico Functional Profiling PhenoPred S-BLEST CRP Web Services ...
  • HMDB00191.txt
    It is found in animals and plants, especially in sugar cane and sugar beets. ... rs3796550; rs4616819; rs17086769; rs6825812; rs11549969; rs5858382; rs17086784; ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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