PKP2 S70I - GET-Evidence

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

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(PKP2 Ser70Ile)

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 @ chr12:33049457: 1.9% (194/10278) in EVS
  • A @ chr12:32940723: 2.8% (3/106) in GET-Evidence
  • Frequency shown in summary reports: 1.9% (194/10278)



hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr12:33049457


GS19649 - var-GS19649-1100-36-ASM
hom A @ chr12:32940724




Other external references

  • rs75909145
  • GeneTests records for the PKP2 gene
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autos
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 9
    Web search results (4 hits -- see all)
  • Type I- 99%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... P02766 S70I 70 VAR_007565 IKK (0.815) amyloidosis, FAC and FAB 1520336 CTNNB1 ...
  • Type I- 97%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... CK1 (0.632) Con1-, abolishes the glycosylation site at position 238 8554050 NME1 ...
  • Missense Variants in <i>Plakophilin-2</i> in Arrhythmogenic ...
    Karger is a medical publisher, scientific publisher and biomedical publisher of print and online journals and books.

Other in silico analyses

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 4

Edit history

Gene search

"GENE" or "GENE A123C":

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