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Details for EVC:c.2240C>T, p.Ala747Val

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
5800455	5798728

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2240C>T

PROTEIN CHANGE

p.Ala747Val

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
3.687e-05	0.0001315	0.0	0.0	5.513e-05	0.0	5.482e-05	0.0	0.0

ESP
AA	EA
0.0002284	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.371874	Polymorphism

DBSNP ID

1 combination linked to EVC:c.2240C>T, p.Ala747Val

1 disease linked to EVC:c.2240C>T, p.Ala747Val

Disorder of sex development

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