Details for FOLR3:c.664T>C, p.Ser222Pro

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
7185067572139631
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE FOLR3
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT ENST00000456237.1
CDNA CHANGE c.664T>C
PROTEIN CHANGE p.Ser222Pro
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00019176.352e-050.00026020.00.00.00.00032680.03.266e-05

ESP
AAEA
0.00.0002329
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging1.597954Polymorphism
DBSNP ID rs2229185
1 combination linked to FOLR3:c.664T>C, p.Ser222Pro OLI694
1 disease linked to FOLR3:c.664T>C, p.Ser222Pro Isolated anencephaly
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