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Details for MTHFD1:c.1673C>T, p.Thr558Met

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
64905889	64439171

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1673C>T

PROTEIN CHANGE

p.Thr558Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
5.174e-05	6.155e-05	0.0	0.0	0.0001632	0.0	2.64e-05	0.0	0.0001963

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.797756	Polymorphism

DBSNP ID

1 combination linked to MTHFD1:c.1673C>T, p.Thr558Met

1 disease linked to MTHFD1:c.1673C>T, p.Thr558Met

Isolated anencephaly

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