KRT16 L130P - 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 L130P

(KRT16 Leu130Pro)

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
    Web search results (2 hits -- see all)
  • Type III 98%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT ... Polymorphism (dbSNP:rs3865205) 9920877 KRT16 P08779 R127C 130 VAR_009184 CK2 ...
  • Type III 99%
    ... transport activity is impaired 11477083 KRT16 P08779 R127P 130 VAR_012856 CK2 (0. ... Polymorphism (dbSNP:rs3732401) RAB27A P51159 L130P 135 VAR_011334 CAMKL (0.672) ...

Other in silico analyses

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 5

Edit history

Gene search

"GENE" or "GENE A123C":

Log in