Details for ST14:c.508G>A, p.Glu170Lys

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
130059701130189806
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE ST14
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_021978.3
CDNA CHANGE c.508G>A
PROTEIN CHANGE p.Glu170Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00120.00080.00140.00.0030.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0018290.00043150.0010130.00059610.00.00069620.0030850.0016330.001176

ESP
AAEA
0.0013630.00256
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging2.64086Polymorphism
DBSNP ID rs150984123
1 combination linked to ST14:c.508G>A, p.Glu170Lys OLI760
1 disease linked to ST14:c.508G>A, p.Glu170Lys Isolated anencephaly
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