NPEPPS M241T - 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!



(NPEPPS Met241Thr)

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

  • CA @ chr17:43017937: 4.0% (5/126) in GET-Evidence
  • Frequency shown in summary reports: 4.0% (5/126)



hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het CA @ chr17:45662939


hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het CA @ chr17:45662939


hu43860C - CGI sample GS00253-DNA_A01_200_37
het CA @ chr17:45662939


hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het CA @ chr17:45662939


hu604D39 - CGI sample GS00253-DNA_B02_200_37
het CA @ chr17:45662939


hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het CA @ chr17:45662939


huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het CA @ chr17:45662939


huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het CA @ chr17:45662939


GS18502 - var-GS18502-1100-36-ASM
het CA @ chr17:43017938


GS18508 - var-GS18508-1100-36-ASM
het CA @ chr17:43017938


GS18942 - var-GS18942-1100-36-ASM
het CA @ chr17:43017938


GS18947 - var-GS18947-1100-36-ASM
het CA @ chr17:43017938


GS19238 - var-GS19238-1100-36-ASM
het CA @ chr17:43017938


Other external references

  • Score: 1.0 (probably damaging)

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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