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Details for SLC3A1:c.647C>T, p.Thr216Met

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
44508562	44281423

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.647C>T

PROTEIN CHANGE

p.Thr216Met

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
9.148e-05	0.0	2.892e-05	0.0	0.0001087	0.0001848	0.0001319	0.000163	0.0

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.805686	Disease causing

DBSNP ID

1 combination linked to SLC3A1:c.647C>T, p.Thr216Met

1 disease linked to SLC3A1:c.647C>T, p.Thr216Met

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