PLA2G4E N371S - GET-Evidence

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

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(PLA2G4E Asn371Ser)

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 @ chr15:42287606: 4.4% (447/10210) in EVS
  • C @ chr15:40074897: 5.5% (7/128) in GET-Evidence
  • Frequency shown in summary reports: 4.4% (447/10210)



hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr15:42287606


hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr15:42287606


hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr15:42287606


hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chr15:42287606


huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr15:42287606


GS18942 - var-GS18942-1100-36-ASM
hom C @ chr15:40074898


GS18947 - var-GS18947-1100-36-ASM
het C @ chr15:40074898


GS20509 - var-GS20509-1100-36-ASM
het C @ chr15:40074898


Other external references

  • rs4924595
    Web search results (4 hits -- see all)
  • Cytosolic phospholipase A2 epsilon - Homo sapiens (Human)
    PLA2G4E. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... PLA2G4E. PharmGKB. PA142671169. GenAtlas. Search... Phylogenomic databases. eggNOG ...
  • Association of the Polymorphism of Cytosolic PLA2 Family ...
    Schizophrenia is a serious mental disorder with a lifetime prevalence rate of 1% in the ... in the PLA2G4D locus,rs4924595 in the PLA2G4E locus,rs1356410 in the PLA2G4F locus, ...
  • UniProt: Q3MJ16
    DT 25-JUL-2006, sequence version 2. DT 20-APR-2010, entry version 47. DE RecName: ... Phospholipase A2 group IVE; GN Name=PLA2G4E; OS Homo sapiens (Human) ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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