OCA2 M394I - 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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Curation:
Currentness:

OCA2 M394I

(OCA2 Met394Ile)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (2 hits -- see all)
  • P gene mutations
    Go to this link for a map of mutations of the P gene associated with OCA2. ... Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated ...
    albinismdb.med.umn.edu/oca2mut.html
  • OMIM: 611409
    MIM Entry: 611409 Title: *611409 OCA2 GENE ;;PINK-EYED DILUTION; PED;; P GENE ... OCA2 gene: a G-to-A transition, resulting in a met394-to-ile (M394I) ...
    www.genome.jp/dbget-bin/www_bget?omim+611409

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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