NEIL3 P117R - GET-Evidence

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

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(NEIL3 Pro117Arg)

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

  • G @ chr4:178256913: 9.9% (1063/10754) in EVS
  • G @ chr4:178493906: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 9.9% (1063/10754)



hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr4:178256913



hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het G @ chr4:178256913


hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr4:178256913


hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr4:178256913


huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het G @ chr4:178256913


huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het G @ chr4:178256913


huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het G @ chr4:178256913


GS19703 - var-GS19703-1100-36-ASM
het G @ chr4:178493907


GS21767 - var-GS21767-1100-36-ASM
het G @ chr4:178493907


Other external references

  • rs7689099
  • Score: 0.998 (probably damaging)
    Web search results (11 hits -- see all)
  • NEIL3 Gene - GeneCards | NEIL3 Protein | NEIL3 Antibody
    EntrezGene summary for NEIL3: NEIL3 belongs to a class of DNA ... NEIL3 Gene in genomic location: bands according to Ensembl, locations according ...
  • Endonuclease VIII-like 3 - Homo sapiens (Human)
    "Expression patterns of Neil3 during embryonic brain development and neoplasia. ... "Human Nei-like protein NEIL3 has AP lyase activity specific for single-stranded ...
  • AceView: Gene:NEIL3, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
  • Supplementary File 3
    5436 genes (unique) and 6516 proteins (unique) have at least one nsSNP that is both ... NEIL3. NM_018248. rs7689099. Pro. 117. Arg. probably damaging. DELETERIOUS ...
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: NEIL3 ... MutDB MutPred In Silico Functional Profiling PhenoPred S-BLEST CRP Web Services ...
  • Type II- 99%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... NEIL3 Q8TAT5 P117R 116 VAR_020590 MAPK (0.974) Polymorphism (dbSNP:rs7689099) 15489334 ...
  • .:: repairsnps ::.
    Search results for 'NEIL3': Gene: NEIL3. Name: nei endonuclease VIII ... rs7689099. NP_060718. C>G. P>R. aa-position:117 [ SNP analysis ] 2. rs17064658. NP_060718. G>C. Q> ...
  • UniProt: Q8TAT5
    ... L.; RT "Expression patterns of Neil3 during embryonic brain development and RT ... RT "Expression and purification of NEIL3, a human DNA glycosylase RT ...

Other in silico analyses

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 2

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Gene search

"GENE" or "GENE A123C":

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