Details for SCUBE2:p.Thr285Met

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
90820689060521
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SCUBE2
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Thr285Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00280.00.00290.00.00890.0031

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0068320.0026460.0026419.94e-050.00010880.0058260.011670.0073650.002682

ESP
AAEA
0.0027260.01071
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.177088Polymorphism
DBSNP ID rs72547298
1 combination linked to SCUBE2:p.Thr285Met OLI683
1 disease linked to SCUBE2:p.Thr285Met Holoprosencephaly
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