Chr :
chr1
Position :
156875621
Ref Allele :
C
Alt Allele :
A
AAChange refGene :
NTRK1:NM_001012331:exon11:c.C1438A:p.L480I,NTRK1:NM_001007792:exon12:c.C1348A:p.L450I,NTRK1:NM_002529:exon12:c.C1456A:p.L486I
UCSC :
chr1-156875621-C-A
OMIM :
NTRK1
dbSNP :
rs772559075
Gene Function :
exonic
Exonic Function :
nonsynonymous SNV

Clinical annotations are based on clinvar version 2019-03-05.

Disease condition(s) :
-
Clinical significance :
-
SIFT : Tolerated
Polyphen2 HDIV : Benign
Polyphen2 HVAR : Benign
LRT : Deleterious
MutationTaster : Disease Causing
MutationAssessor : Medium
FATHMM : Tolerated
PROVEAN : N
VEST3 score : 0.335
VEST3 rankscore : 0.47
MetaSVM : Tolerated
MetaLR : Tolerated
M-CAP : D
REVEL score : 0.281
REVEL rankscore : 0.603
MutPred score : 0.197
MutPred rankscore : 0.11
CADD : 23
DANN score : 0.982
DANN rankscore : 0.386
fathmm MKL coding : D
Eigen coding or noncoding : c
Eigen raw : -0.01
Eigen PC raw : 0.107
GenoCanyon score : 0.981
GenoCanyon score rankscore : 0.302
integrated fitCons score : 0.583
integrated fitCons score rankscore : 0.331
integrated confidence value : 0
GERP++ RS : 4.64
GERP++_RS rankscore : 0.572
phyloP100way vertebrate : 1.585
phyloP100way vertebrate rankscore : 0.36
phyloP20way mammalian : 0.935
phyloP20way mammalian rankscore : 0.49
phastCons100way vertebrate : 0.992
phastCons100way vertebrate rankscore : 0.373
phastCons20way mammalian : 0.988
phastCons20way mammalian rankscore : 0.529
SiPhy 29way logOdds : 11.458
SiPhy 29way logOdds rankscore : 0.493
IndiGen Frequencies
  • Allele Count :    1
  • Allele Frequency :    0.0005
  • Allele Number :    2048
  • Homozygous :    0
  • Heterozygous :    1
1000 Genome
All AFR AMR EAS SAS EUR
- - - - - -
gnomAD
All AFR AMR EAS SAS AMI ASJ FIN NFE OTH
- - - - - - - - - -
GME
All NWA NEA AP Israel SD TP CA
- - - - - - - -
Esp6500
All
-

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