Chr :
chr10
Position :
43100528
Ref Allele :
C
Alt Allele :
T
AAChange refGene :
RET:NM_020630:exon2:c.C143T:p.T48M,RET:NM_020975:exon2:c.C143T:p.T48M
UCSC :
chr10-43100528-C-T
OMIM :
RET
dbSNP :
-
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 : Possibly Damaging
Polyphen2 HVAR : Benign
LRT : Neutral
MutationTaster : Polymorphism
MutationAssessor : Low
FATHMM : Tolerated
PROVEAN : N
VEST3 score : 0.139
VEST3 rankscore : 0.162
MetaSVM : Tolerated
MetaLR : Tolerated
M-CAP : D
REVEL score : 0.305
REVEL rankscore : 0.63
MutPred score : 0.347
MutPred rankscore : 0.343
CADD : 1.173
DANN score : 0.982
DANN rankscore : 0.384
fathmm MKL coding : N
Eigen coding or noncoding : c
Eigen raw : -1.164
Eigen PC raw : -1.302
GenoCanyon score : 0.653
GenoCanyon score rankscore : 0.222
integrated fitCons score : 0.706
integrated fitCons score rankscore : 0.609
integrated confidence value : 0
GERP++ RS : -3.64
GERP++_RS rankscore : 0.042
phyloP100way vertebrate : 0.211
phyloP100way vertebrate rankscore : 0.171
phyloP20way mammalian : -1.446
phyloP20way mammalian rankscore : 0.011
phastCons100way vertebrate : 0.004
phastCons100way vertebrate rankscore : 0.165
phastCons20way mammalian : 0
phastCons20way mammalian rankscore : 0.016
SiPhy 29way logOdds : 13.614
SiPhy 29way logOdds rankscore : 0.614
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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