SCO2 R20P - GET-Evidence

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

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(SCO2 Arg20Pro)

You are viewing an old version of this page that was saved on December 27, 2009 at 4:03pm by Genome Importing Robot.

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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 @ chr22:50962782: 62.9% (6744/10714) in EVS
  • G @ chr22:49309647: 62.1% (77/124) in GET-Evidence
  • Frequency shown in summary reports: 62.9% (6744/10714)



Other external references

  • GeneTests records for the SCO2 gene
    Leigh Syndrome (nuclear DNA mutation)
    Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear g
    Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxid
  • Score: 0 (benign)
    Web search results (8 hits -- see all)
  • SCO2
    function of the second closely related Sco2 gene is unclear as its ... The R20P sequence. variant (G1182C) occurs in the N-terminal mitochondrial targeting. sequence in several ...
  • Mutations in SCO2 are associated with a distinct form of ...
    Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and ... The R20P sequence variant (G1182C) occurs in the N-terminal ...
  • Type III 95%
    ... (s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R 14 ... Polymorphism (dbSNP:rs3865205) 9920877 ST5 P78524 K316N 322 VAR_027101 STE20 (0. ...

Other in silico analyses

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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