IFT80 S357F - 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:

IFT80 S357F

(IFT80 Ser357Phe)


Short summary

 

Variant evidence
Computational

PolyPhen-2 reports that neither AA1 (S) nor AA2 (F) in input matches Q9P2H3 query sequence residue (V) at position (357).

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

  • A @ chr3:160025451: 0.6% (61/10758) in EVS
  • A @ chr3:161508144: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.6% (61/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr3:160025451

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr3:160025451

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr3:161508145

 

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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