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Details for FAT4:c.3937C>T, p.Pro1313Ser

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
126241503	125320348

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.3937C>T

PROTEIN CHANGE

p.Pro1313Ser

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
4.01e-05	0.0	0.0	0.0	0.0	4.644e-05	7.071e-05	0.0	3.268e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.682506	None

DBSNP ID

1 combination linked to FAT4:c.3937C>T, p.Pro1313Ser

1 disease linked to FAT4:c.3937C>T, p.Pro1313Ser

Isolated anencephaly

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