ACOT4 A187D - GET-Evidence

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

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(ACOT4 Ala187Asp)

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 @ chr14:74060508: 6.9% (741/10754) in EVS
  • A @ chr14:73130260: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 6.9% (741/10754)



hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr14:74060508


hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom A @ chr14:74060508


hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr14:74060508



hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr14:74060508


hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom A @ chr14:74060508


hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom A @ chr14:74060508



huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr14:74060508


huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr14:74060508


huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr14:74060508


GS06994 - var-GS06994-1100-36-ASM
het A @ chr14:73130261


GS19129 - var-GS19129-1100-36-ASM
het A @ chr14:73130261


GS20502 - var-GS20502-1100-36-ASM
het A @ chr14:73130261


Other external references

  • rs35724886
  • Score: 0.993 (probably damaging)
    Web search results (10 hits -- see all)
  • ACOT4 Gene - GeneCards | ACOT4 Protein | ACOT4 Antibody
    ACOT4 Gene in genomic location: bands according to Ensembl, locations ... for ACOT4 gene (According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according ...
  • AceView: Gene:ACOT4, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
  • Acyl-coenzyme A thioesterase 4 - Homo sapiens (Human)
    Human ACOT4 may have acquired the combined activities of mouse ACOT3, ... A D: dbSNP rs35724886. VAR_052301. Experimental info. Sequence conflict. 130. 1. L P in ...
  • UniProt: ACOT4_HUMAN
    AC Q8N9L9; Q17RF4; Q5BKT6; Q86TX0; Q86TX1; Q96N88; DT 19-JUL-2004, integrated into ... Human ACOT4 may have acquired the combined CC activities of mouse ACOT3, ACOT4, and ACOT5. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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