CES1 R4P - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!



(CES1 Arg4Pro)

Short summary


Variant evidence

PolyPhen-2 reports: Unable to locate protein entry ces1 in the available version of UniProtKB.

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 @ chr16:55866957: 0.1% (6/10510) in EVS
  • G @ chr16:54424457: 11.3% (14/124) in GET-Evidence
  • Frequency shown in summary reports: 0.1% (6/10510)



hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr16:55866957


hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr16:55866957



hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
hom G @ chr16:55866957


huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het G @ chr16:55866957


GS12004 - var-GS12004-1100-36-ASM
hom G @ chr16:54424458


GS18501 - var-GS18501-1100-36-ASM
het G @ chr16:54424458


GS18508 - var-GS18508-1100-36-ASM
het G @ chr16:54424458


GS18537 - var-GS18537-1100-36-ASM
het G @ chr16:54424458


GS18558 - var-GS18558-1100-36-ASM
het G @ chr16:54424458


GS19026 - var-GS19026-1100-36-ASM
het G @ chr16:54424458


GS19129 - var-GS19129-1100-36-ASM
het G @ chr16:54424458


GS20509 - var-GS20509-1100-36-ASM
het G @ chr16:54424458


Other external references

  • rs111604615
  • Score: 0.24 (possibly damaging)
    Web search results (5 hits -- see all)
  • AceView: Gene:CES1, 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 ...
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  • MANGIster
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Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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