SLC25A13 R588Q - GET-Evidence

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

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SLC25A13 R588Q

(SLC25A13 Arg588Gln)

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.



Other external references

  • Score: 0.999 (probably damaging)
    Web search results (2 hits -- see all)
  • An Adult with Type 2 Citrullinemia Presenting in Europe
    Sequencing of the patient's SLC25A13 gene re- vealed homozygosity for ... wild-type or R588Q AGC2. The proteoliposomes were. preloaded internally with 20 mM of ...
  • Author's personal copy
    SLC25A13 is the only gene known to be associated with AGC2 ... To examine the consequences of the R588Q mutation, docking of. glutamate was performed ...

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 6

Edit history

Gene search

"GENE" or "GENE A123C":

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