CTSD A58V - GET-Evidence

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

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(CTSD Ala58Val)

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 @ chr11:1782594: 6.5% (694/10758) in EVS
  • A @ chr11:1739169: 6.3% (8/126) in GET-Evidence
  • Frequency shown in summary reports: 6.5% (694/10758)



hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr11:1782594


hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr11:1782594







huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr11:1782594


GS10851 - var-GS10851-1100-36-ASM
het A @ chr11:1739170


GS18558 - var-GS18558-1100-36-ASM
het A @ chr11:1739170


GS19669 - var-GS19669-1100-36-ASM
het A @ chr11:1739170




Other external references

  • rs17571
  • Score: 0.003 (benign)
    Web search results (11 hits -- see all)
  • BiomedExperts: Cathepsin D: screening for new polymorphisms ...
    Previous findings revealed a significant association between the T allele of the 224 C/T (A58V) polymorphism in exon 2 of the CTSD gene and late onset AD. ...
  • AceView: Gene:CTSD, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
  • Genetics | BRAINnet - Brain Research And Integrative ...
    MolecularNeuro – Collection via cheek swab or saliva method (and in some cases bloods) of DNA for extraction of SNPs and other variants of interest which
  • NCI CANCERLIT® Search: Genetic Counseling and Screening ...
    Cathepsin D (CTSD) is a lysosomal protease involved in the ... between the T allele of the 224 C/T (A58V) polymorphism in exon 2 of the CTSD gene and late onset AD. ...
  • SNP Name
    CTSD. 11. rs17571. nonsynonymous associated with AD[3] and general intelligence [4]. A58V. 0.71. CTSD. 11. rs13345. synonymous. 0.81. CTSH. 15. rs12148472. intron/splice site. 0.85 ...
  • Table 3 Text
    ... total chromosomes genotyped MAF mean MAF stdev chromosomes genotyped ... criterion prediction score number sequences aligned prediction score divergence ...
  • Type II- 97%
    ... Reference(s) for phosphorylation site ENPEP Q07075 R213Q 216 VAR_030359 AGC (0. ... sample, somatic mutation 17344846 CTSD P07339 A58V 56 VAR_011621 gCK1 (0.561) ...
  • Cathepsin D: screening for new polymorphisms using single ...
    Cathepsin D (CTSD) is a lysosomal protease involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer's disease (AD)
  • Parkinson Disease Knowledgebase
    The findings suggest interference of CTSD and APOE polymorphisms in the ... Variation Impact. Negative Result. Variation. p.A58V. c.306C>T. RefSeq ID. rs17571. suisheng ...
  • How to... | BRAINnet - Brain Research And Integrative ...
    .. Acknowledge the BRAINnet Database? Refer to the Data? Acknowledging the BRAINnet Database BRAINnet Acknowledgments to use

Other in silico analyses

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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