KRT16 L128Q - 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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Curation:
Currentness:

KRT16 L128Q

(KRT16 Leu128Gln)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the KRT16 gene
    Pachyonychia Congenita
    Pachyonychia Congenita Type 1
    Nonepidermolytic Palmoplantar Hyperkeratosis
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT16
    PolyPhen-2
  • Score: 0.997 (probably damaging)
    Web search results (1 hit -- see all)
  • OMIM: 148067
    KRT16 is constitutively expressed in most stratified squamous epithelia, but it ... reported a leu128-to-gln (L128Q) mutation in the KRT16 protein that arose from a ...
    www.genome.jp/dbget-bin/www_bget?omim+148067

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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