MAP3K14 S140N - 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!


MAP3K14 S140N

(MAP3K14 Ser140Asn)

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

  • T @ chr17:43364638: 0.8% (84/10108) in EVS
  • T @ chr17:40720420: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.8% (84/10108)



hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr17:43364638


hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr17:43364638


Other external references

  • rs11574819
    Web search results (7 hits -- see all)
  • MAP3K14 Gene - GeneCards | M3K14 Protein | M3K14 Antibody
    EntrezGene summary for MAP3K14: This gene encodes mitogen-activated protein kinase kinase ... MAP3K14 Gene in genomic location: bands according to Ensembl, ...
  • Mitogen-activated protein kinase kinase kinase 14 - Homo ...
    MAP3K14. Synonyms: NIK. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... S N: dbSNP rs11574819. Ref.8. VAR_040711. Natural variant. 255. 1. T M: ...
  • Mooney Lab - MutDB
    MAP3K14. Number of Transcript Variants. 0. Visualize Pathways. Using web services (slow) ... DBSNP:rs11574819. 40720420. A G. NCBI. In dbsnp. reverse. DBSNP:rs17846856 ...
  • UniProt: Q99558
    DT 04-APR-2006, sequence version 2. DT 23-MAR-2010, entry version 102. DE ... H-InvDB; HIX0013897; -. DR H-InvDB; HIX0027152; -. DR HGNC; HGNC:6853; MAP3K14. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

Log in