CLCNKA V457I - 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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(CLCNKA Val457Ile)

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 @ chr1:16356531: 4.1% (436/10756) in EVS
  • ATC @ chr1:16229117: 7.0% (9/128) in GET-Evidence
  • Frequency shown in summary reports: 4.1% (436/10756)



hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het ATC @ chr1:16356531


hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het ATC @ chr1:16356531


hu9385BA - CGI sample GS00253-DNA_E01_200_37
het ATC @ chr1:16356531


huC30901 - CGI sample GS00253-DNA_B01_200_37
het ATC @ chr1:16356531


huE80E3D - CGI sample GS00253-DNA_D01_200_37
het ATC @ chr1:16356531


GS19020 - var-GS19020-1100-36-ASM
het ATC @ chr1:16229118


GS19238 - var-GS19238-1100-36-ASM
het ATC @ chr1:16229118


GS19240 - var-GS19240-1100-36-ASM
het ATC @ chr1:16229118


GS19834 - var-GS19834-1100-36-ASM
het ATC @ chr1:16229118


Other external references

  • rs35747151
  • Score: 0 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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