ACSF3 A17P - 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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(ACSF3 Ala17Pro)

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

  • C @ chr16:89167138: 2.7% (287/10582) in EVS
  • CCC @ chr16:87694638: 4.1% (3/74) in GET-Evidence
  • Frequency shown in summary reports: 2.7% (287/10582)




hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het CCC @ chr16:89167138


hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het CCC @ chr16:89167138


hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het CCC @ chr16:89167138


GS20509 - var-GS20509-1100-36-ASM
het CCC @ chr16:87694639


Other external references

  • rs11547019
    Web search results (3 hits -- see all)
  • Acyl-CoA synthetase family member 3, mitochondrial precursor ...
    Databases that you can search in. Query. Enter your search text here. Enter your search ... ACSF3. ORF Names: PSEC0197. Organism. Homo sapiens (Human) [Complete ...
  • Databases : Nature Lipidomics Gateway
    Nature - the world's best science and medicine on your desktop ... ACSF3 protein [Homo sapiens] GenBank. 71052209. AAH28399. 576. ACSF3 protein [Homo sapiens] ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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