CCR2 V64I - 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:

CCR2 V64I

(CCR2 Val64Ile)


Short summary

Associated with slower HIV disease progression.

Variant evidence
Computational 3

PolyPhen2: Benign, score 0.075
SIFT: Tolerated 0.42
GVGD: GV 28.68; GD 0.00; Class C0
Variant Effect Predictor (Ensembl):
SIFT=tolerated(0.23);
PolyPhen=benign(0.075);
Condel=neutral(0.377)
Mutation Tasting Prediction: Polymorphism, P value: 0.781857; protein features (might be) affected (aa 41-69 HELIX gets lost; aa 43-70 TRANSMEM Helical; Name=1; (Potential) gets lost)

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

Impact

Insufficiently evaluated protective

(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

  • A @ chr3:46399208: 11.4% (894/7820) in EVS
  • A @ chr3:46374211: 14.8% (19/128) in GET-Evidence
  • Frequency shown in summary reports: 11.4% (894/7820)

Publications
 

Genomes
 

 

 

 

 

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr3:46374212

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr3:46374212

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr3:46374212

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr3:46374212

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr3:46374212

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr3:46374212

 

GS19017 - var-GS19017-1100-36-ASM
hom A @ chr3:46374212

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr3:46374212

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr3:46374212

 

GS19239 - var-GS19239-1100-36-ASM
hom A @ chr3:46374212

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr3:46374212

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr3:46374212

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr3:46374212

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr3:46374212

 

Other external references
 

    dbSNP
  • rs1799864
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.001 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in