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Details for FAT4:c.11893C>T, p.Pro3965Ser

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
126384810	125463655

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.11893C>T

PROTEIN CHANGE

p.Pro3965Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	3.637291	Polymorphism

DBSNP ID

1 combination linked to FAT4:c.11893C>T, p.Pro3965Ser

1 disease linked to FAT4:c.11893C>T, p.Pro3965Ser

Isolated anencephaly

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