KRT1 A454S - 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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KRT1 A454S

(KRT1 Ala454Ser)

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

  • A @ chr12:53070174: 2.1% (223/10758) in EVS
  • A @ chr12:51356440: 0.9% (1/110) in GET-Evidence
  • Frequency shown in summary reports: 2.1% (223/10758)



huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr12:53070174


Other external references

  • rs17678945
    Web search results (1 hit -- see all)
  • identification of genetic variants influencing prognosis
    Gabrielle S Sellick, Rachel Wade, Susan Richards, David G. Oscier, Daniel Catovsky and ... KRT1. A454S. rs17678945 G 395. 1.59 1.03 2.44. 0.035. Polymerase (DNA directed), beta. POLB ...

Other in silico analyses

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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