APOBEC3B E363D - 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:

APOBEC3B E363D

(APOBEC3B Glu363Asp)


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

  • T @ chr22:39388109: 0.1% (7/10716) in EVS
  • T @ chr22:37718054: 4.3% (5/116) in GET-Evidence
  • Frequency shown in summary reports: 0.1% (7/10716)

Publications
 

Genomes
 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom T @ chr22:39388109

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom T @ chr22:39388109

 

GS18537 - var-GS18537-1100-36-ASM
hom T @ chr22:37718055

 

GS18947 - var-GS18947-1100-36-ASM
hom T @ chr22:37718055

 

Other external references
 

    PolyPhen-2
  • Score: 0.001 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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