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Details for MAP4K4:c.1694G>A, p.Arg565Gln

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
102476316	101859854

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1694G>A

PROTEIN CHANGE

p.Arg565Gln

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
2.221e-05	0.0	0.0	0.0	6.05e-05	0.0	3.97e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	2.286394	Disease causing

DBSNP ID

1 combination linked to MAP4K4:c.1694G>A, p.Arg565Gln

1 disease linked to MAP4K4:c.1694G>A, p.Arg565Gln

Cerebral arteriovenous malformation

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