TNXB W458C - 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!

Curation:
Currentness:

TNXB W458C

(TNXB Trp458Cys)


Short summary

 

Variant evidence
Computational 1

PolyPhen-2 reports: Neither AA1 (W) nor AA2© in input matches P22105 query sequence residue (G) at position (458).

Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(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
 

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom G @ chr6:31977528

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr6:31977528

 

 

 

 

 

Other external references
 

    dbSNP
  • rs4959086
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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