PAPSS2 V296M - GET-Evidence

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

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(PAPSS2 Val296Met)

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

  • A @ chr10:89487046: 0.9% (101/10758) in EVS
  • Frequency shown in summary reports: 0.9% (101/10758)



hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr10:89487046


Other external references

  • rs45467596
    Web search results (6 hits -- see all)
  • Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 ...
    Defects in PAPSS2 are the cause of spondyloepimetaphyseal dysplasia Pakistani ... phosphoadenosine 5'-phosphosulfate synthetase 2 (PAPSS2) pharmacogenetics: gene ...
  • PAPSS2 Gene - GeneCards | PAPS2 Protein | PAPS2 Antibody
    EntrezGene summary for PAPSS2: Sulfation is a common modification of endogenous (lipids, ... PAPSS2 Gene in genomic location: bands according to Ensembl, ...
  • Submission PS203391 [PharmGKB]
    PAPSS2 complete resubmission to fix small submission process errors (small file ... rs45467596. PAPSS2. G/A. plus. Exon1. Val/Met. 98.33%/1.67% 180. 140. PCR. View. chr10:89491203 ...
  • UniProt: PAPS2_HUMAN
    CC -!- DISEASE: Defects in PAPSS2 are the cause of spondyloepimetaphyseal CC dysplasia ... 291 291 V -> M (significant decrease of activity; FT dbSNP:rs45467596) ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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