KRT16 R127P - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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KRT16 R127P

(KRT16 Arg127Pro)

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 (8 hits -- see all)
  • Mendelian Inheritance in Man Document Reader
    ... nucleotide 380 of the KRT16 gene, resulting in an arg127-to-pro (R127P) amino acid change, ... PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE KRT16, GLN122PRO In a family of ...
  • Type II- 99%
    ... PKA (0.923) PKC (0.754) GRK (0.544) AKT (0.651) 9482578 KRT16 P08779 R127P 130 VAR_012856 AGC (0.945) PKA (0.877) AKT (0.638) RSK (0.968) PC1 ...
  • Type II- 98%
    ... Reference(s) for variant Reference(s) for phosphorylation site ENPEP Q07075 R213Q 216 ... 544) AKT (0.651) 9482578 KRT16 P08779 R127P 130 VAR_012856 AGC (0.945) ...
  • OMIM: 148067
    KRT16 is constitutively expressed in most stratified squamous ... (R127P) amino acid change, using a novel long-range PCR strategy that eliminated amplification of KRT16 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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