KRT16 Q122P - 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!


KRT16 Q122P

(KRT16 Gln122Pro)

Short summary


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


Insufficiently evaluated pathogenic

(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

  • None available.



Other external references

  • GeneTests records for the KRT16 gene
    Pachyonychia Congenita
    Pachyonychia Congenita Type 1
    Nonepidermolytic Palmoplantar Hyperkeratosis
  • Score: 0.999 (probably damaging)
    Web search results (2 hits -- see all)
  • Mendelian Inheritance in Man Document Reader
    0002 NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA KRT16, ARG125CYS Nonepidermolytic palmoplantar keratoderma ... of the KRT16 gene, resulting in a gln122-to-pro (Q122P) amino acid ...
  • OMIM: 148067
    KRT16 is constitutively expressed in most stratified squamous ... (Q122P) amino acid change, using a novel long-range PCR strategy that eliminated amplification of KRT16 ...

Other in silico analyses

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 6

Edit history

Gene search

"GENE" or "GENE A123C":

Log in