SSFA2 P836L - 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!



(SSFA2 Pro836Leu)

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

  • T @ chr2:182780874: 3.9% (421/10758) in EVS
  • T @ chr2:182489118: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 3.9% (421/10758)



hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr2:182780874



hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr2:182780874


huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr2:182780874


Other external references

  • rs17647806
  • Score: 0.992 (probably damaging)
    Web search results (6 hits -- see all)
  • SSFA2 Gene - GeneCards | SSFA2 Protein | SSFA2 Antibody
    SSFA2 Gene in genomic location: bands according to Ensembl, locations ... for SSFA2 gene (According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according ...
  • Sperm-specific antigen 2 - Homo sapiens (Human)
    Enter your search text here. Enter your search query here. Reset button. Fields " Search ... SSFA2. Synonyms: CS1, KIAA1927, KRAP. Organism. Homo sapiens (Human) ...
  • Supplementary Table xls.1
    rs17647806*P836L. rs17648128*COLM NM_181789 NP_861454*S141Ncollomin ... rs13419020*SSFA2 NM_006751 NP_006742*R833W*sperm specific antigen 2. rs13434465*ACOX3 ...
  • Type III 95%
    ... (s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R 14 ... Polymorphism (dbSNP:rs3865205) 9920877 ST5 P78524 K316N 322 VAR_027101 STE20 (0. ...

Other in silico analyses

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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