PARP4 I81V - GET-Evidence

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

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(PARP4 Ile81Val)

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

  • C @ chr13:25075864: 3.1% (338/10758) in EVS
  • C @ chr13:23973863: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 3.1% (338/10758)



hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr13:25075864


hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom C @ chr13:25075864


GS20502 - var-GS20502-1100-36-ASM
het C @ chr13:23973864


Other external references

  • rs35200240
    Web search results (2 hits -- see all)
  • Poly [ADP-ribose] polymerase 4 - Homo sapiens (Human)
    PARP4. Synonyms: ADPRTL1, KIAA0177, PARPL. Organism. Homo sapiens (Human) ... particle, at least composed of MVP, PARP4 and one or more vault RNAs (vRNAs) ...
  • UniProt: Q9UKK3
    AC Q9UKK3; O75903; Q14682; Q9H1M6; DT 26-SEP-2001, integrated into ... particle, at CC least composed of MVP, PARP4 and one or more vault RNAs (vRNAs) ...

Other in silico analyses

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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