EVC2 T462A - 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:

EVC2 T462A

(EVC2 Thr462Ala)


Short summary

 

Variant evidence
Computational -
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

  • C @ chr4:5642327: 1.2% (131/10758) in EVS
  • C @ chr4:5693227: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 1.2% (131/10758)

Publications
 

Genomes
 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr4:5693228

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr4:5693228

 

Other external references
 

    dbSNP
  • rs73063795
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.489 (possibly damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in