Details for WNT4:p.Val204Met

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
2244698922120496
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE WNT4
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Val204Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
4.068e-060.00.00.00.00.09.07e-060.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign3.137561Disease causing
DBSNP ID rs1302800042
1 combination linked to WNT4:p.Val204Met OLI683
1 disease linked to WNT4:p.Val204Met Holoprosencephaly

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