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Details for SLC3A1:c.1400T>C, p.Met467Thr

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
44539792	44312653

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.1400T>C

PROTEIN CHANGE

p.Met467Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.001	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002496	0.0007998	0.001012	0.005262	0.0	0.0009701	0.00422	0.002779	0.000294

ESP
AA	EA
0.0009079	0.002674

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	2.551968	Disease causing

DBSNP ID

5 combinations linked to SLC3A1:c.1400T>C, p.Met467Thr

OLI166; OLI178; OLI179; OLI180; OLI181

1 disease linked to SLC3A1:c.1400T>C, p.Met467Thr

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