ZNF516 G239S - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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ZNF516 G239S

(ZNF516 Gly239Ser)

Short summary


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


Insufficiently evaluated not reviewed

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

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • T @ chr18:74154296: 0.3% (26/10240) in EVS
  • Frequency shown in summary reports: 0.3% (26/10240)



Other external references

    Web search results (3 hits -- see all)
  • Zinc finger protein 516 - Homo sapiens (Human)
    ZNF516. Synonyms: KIAA0222. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... G S: dbSNP rs12961584. VAR_052853. Hide | Top. SequencesHide. Sequence. Length. Mass (Da) ...
  • ZNF516 Gene - GeneCards | ZN516 Protein | ZN516 Antibody
    ZNF516 Gene in genomic location: bands according to Ensembl, locations according to (and ... ZNF516 for ontologies About GeneDecksing. Antibodies for ZNF516: ...
  • UniProt: Q92618
    AC Q92618; DT 20-JUN-2001, integrated into UniProtKB/Swiss-Prot. DT ... finger protein 516; GN Name=ZNF516; Synonyms=KIAA0222; OS Homo sapiens (Human) ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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