FREM2 E1972K - GET-Evidence

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

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FREM2 E1972K

(FREM2 Glu1972Lys)

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

  • Score: 0.998 (probably damaging)
    Web search results (3 hits -- see all)
  • The genetics of Fraser syndrome and the blebs mouse mutants ...
    ... a mutation in human FREM2 (E1972K), which substitutes a strongly ... Fras1 and Frem2 are transmembrane proteins, whereas Frem1 contains a lectin type C domain at its C-terminus. ...
  • Type II- 95%
    ... HSD11B2 P80365 R186C 184 VAR_015637 PKC (0.550) AME 7593417 9661590 PKLR P30613 ... CK2 (0.708) PA-2 FREM2 Q5SZK8 E1972K 1976 VAR_023201 PIKK (0.557) Fraser ...
  • OMIM: 608945
    Frem1-knockout mice had reduced expression of Fras1 and Frem2 at the basement membrane. ... the FREM2 gene, resulting in a glu1972-to-lys (E1972K) substitution ...

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 5

Edit history

Gene search

"GENE" or "GENE A123C":

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