ACADS R171W - 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!



(ACADS Arg171Trp)

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 @ chr12:121175678: 3.4% (362/10758) in EVS
  • Frequency shown in summary reports: 3.4% (362/10758)



hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr12:121175678


Other external references

  • rs1800556
  • Score: 0.587 (possibly damaging)
    Web search results (4 hits -- see all)
  • Genetic Variation in an Individual Human Exome
    J. Craig Venter Institute, Rockville, Maryland, United States of ... R171W. ACADS with 171W has residual activity (45%). Because this is polymorphic in the ...
  • EC - butyryl-CoA dehydrogenase
    R171W. Homo sapiens. mutant shows a temperature-dependent production of ... The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA ...
  • UF > HOS 4304 > Ng08 (2009-01-10 18:36:56)
    Variation Genetic in an Individual Human Exome Pauline C. Ng*, Samuel Levy, ... protein function.d rs1800556 R171W ACADS MAF = 0.17 ACADS with 171W has residual ...

Other in silico analyses

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

Log in