CNTNAP4 L251V - 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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(CNTNAP4 Leu251Val)

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 @ chr16:76482747: 3.4% (371/10758) in EVS
  • G @ chr16:75040247: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 3.4% (371/10758)



hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het G @ chr16:76482747



GS19020 - var-GS19020-1100-36-ASM
het G @ chr16:75040248


GS19701 - var-GS19701-1100-36-ASM
het G @ chr16:75040248


Other external references

  • rs34251012
    Web search results (2 hits -- see all)
  • Contactin-associated protein-like 4 precursor - Homo sapiens ...
    Enter your search text here. Enter your search query here. Reset button. Fields " Search ... CNTNAP4. Synonyms: CASPR4, KIAA1763. Organism. Homo sapiens (Human) ...
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ**Arial1 ... X, member 1. rs12364710*UVRAG NM_003369 NP_003360*L251V'UV radiation ...

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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