Details for TPO:p.Pro906Leu

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
15444641540692
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TPO
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Pro906Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00140.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0024620.00012360.0011570.024365.448e-050.00050840.0026440.0027786.534e-05

ESP
AAEA
0.00.003488
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.34471Polymorphism
DBSNP ID rs138289170
1 combination linked to TPO:p.Pro906Leu OLI587
1 disease linked to TPO:p.Pro906Leu Congenital hypothyroidism
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