BCKDHA Q42R - GET-Evidence

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

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(BCKDHA Gln42Arg)

You are viewing the latest version of this page, saved on May 22, 2013 at 10:43am by Paul Szauter.

Edited in this revision:

Short summary


Variant evidence
Computational 1

PolyPhen-2 predicts BCKDHA-Q42R to be BENIGN with a score of 0.059 (sensitivity: 0.94; specificity: 0.84).

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

  • G @ chr19:41916558: 0.1% (7/10758) in EVS
  • G @ chr19:46608397: 1.6% (2/122) in GET-Evidence
  • Frequency shown in summary reports: 0.1% (7/10758)



hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr19:41916558


GS19017 - var-GS19017-1100-36-ASM
het G @ chr19:46608398


Other external references

  • Score: 0.063 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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