NUPL1 S166P - 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!



(NUPL1 Ser166Pro)

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 @ chr13:25887811: 3.2% (346/10758) in EVS
  • C @ chr13:24785810: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 3.2% (346/10758)




hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr13:25887811


hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het C @ chr13:25887811


huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het C @ chr13:25887811


GS20509 - var-GS20509-1100-36-ASM
het C @ chr13:24785811


Other external references

  • rs12871608
  • Score: 0.514 (possibly damaging)
    Web search results (4 hits -- see all)
  • NUPL1 Gene - GeneCards | NUPL1 Protein | NUPL1 Antibody
    EntrezGene summary for NUPL1: This gene encodes a member of the nucleoporin family that ... NUPL1 Gene in genomic location: bands according to Ensembl, locations ...
  • Nucleoporin p58/p45 - Homo sapiens (Human)
    In rat, the p62 complex contains two different isoforms of NUPL1. ... Belongs to the NUPL1 family. Sequence caution. The sequence BAA23706.2 differs from that ...

Other in silico analyses

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

Log in