CACNA1C P1868L - 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!

Curation:
Currentness:

CACNA1C P1868L

(CACNA1C Pro1868Leu)


Short summary

 

Variant evidence
Computational 3

PolyPhen: Benign, score 0.000
SIFT: Tolerated 1.00
GVGD: GV 353.86; GD 0.00; Class C0

Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants
het T @ chr12:2661391

rs10848683
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=10848683

Other external references
 

    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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