Details for FAT4:c.739C>A, p.Pro247Thr

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
126238305125317150
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FAT4
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_001291285.1
CDNA CHANGE c.739C>A
PROTEIN CHANGE p.Pro247Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00280.00080.01010.0010.0050.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0042070.0013210.0065990.00080860.00.0026070.0060460.0065150.0004606

ESP
AAEA
0.0010130.005661
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging3.02566Polymorphism
DBSNP ID rs191329848
1 combination linked to FAT4:c.739C>A, p.Pro247Thr OLI696
1 disease linked to FAT4:c.739C>A, p.Pro247Thr Isolated anencephaly
Found any issues with the data on this page? Report this entry.