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Details for CAT:c.1235C>T, p.Pro412Leu

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
34485691	34464144

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1235C>T

PROTEIN CHANGE

p.Pro412Leu

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
4.771e-05	0.0	2.891e-05	0.0	0.0	0.0	7.911e-05	0.0	6.533e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.62923	Disease causing

DBSNP ID

1 combination linked to CAT:c.1235C>T, p.Pro412Leu

1 disease linked to CAT:c.1235C>T, p.Pro412Leu

Isolated anencephaly

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