CYP4F22 H435Y - 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!


CYP4F22 H435Y

(CYP4F22 His435Tyr)

You are viewing the latest version of this page, saved on January 5, 2010 at 10:42pm by OMIM Importing Robot.

Edited in this revision:

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 CYP4F22 gene
    Autosomal Recessive Congenital Ichthyosis
    CYP4F22-Related Autosomal Recessive Congenital Ichthyosis
  • Score: 0.999 (probably damaging)
    Web search results (3 hits -- see all)
  • Mutations in a new cytochrome P450 gene in lamellar ...
    H435Y. Sequences of the mutation sites are shown for one parent, one affected patient and one normal control ... named CYP4F22 by D.R. Nelson, and is described in refer ...
  • Mutations in a new cytochrome P450 gene in lamellar ...
    The same 1303CT (H435Y) mutation was shared by six families, all were from ... same as a gene which has been named CYP4F22 by D.R. Nelson, and is described in ...
  • OMIM: 611495
    CYP4F22 is evolutionarily conserved, displays 86% protein homology with rodent ... the CYP4F22 gene, resulting in a his435-to-tyr (H435Y) substitution ...

Other in silico analyses

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 5

Edit history

Gene search

"GENE" or "GENE A123C":

Log in