T-REx

Variant location (GRCh37) chr14:65234526

Variant class : SNV
Alleles : A/C
Existing ID : rs121918649&CM961354&COSM6141110&COSM6141111

Quality score : 6871.46
Filter : PASS

Annotations

Consequence	Impact	Gene	HGVSg	HGVSc	HGVSp	cDNA position	CDS position	Protein position	Codons	Amino acids	SIFT score	PolyPhen score
missense_variant	MODERATE	SPTB	chr14:g.65234526A>C	NM_001024858.2:c.6074T>G	NP_001020029.1:p.Leu2025Arg	6128/10064	6074/6987	2025/2328	cTg/cGg	L/R	deleterious(0)	probably_damaging(0.99)

Allele frequencies

Subpopulation	Allele count	Allele number	Allele frequency
Group A	0	228	C:0.000e+00
Group B	0	170	C:0.000e+00
Group C	6	588	C:0.010
Group D	0	872	C:0.000e+00
Group E	1	198	C:0.005
Group X	0	128	C:0.000e+00
All Thais	7	2184	C:0.003

Other Population frequencies from gnomAD

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Exomes
Genomes

Population		Allele Count	Allele Number	Number of Homozygotes	Allele Frequency
African
Ashkenazi Jewish
European (non-Finnish)
	Southern European
	North-western European
	Bulgarian
East Asian
	Japanese
	Korean
	Other East Asian
European (Finnish)
South Asian
Other

Population		Allele Count	Allele Number	Number of Homozygotes	Allele Frequency
African
Ashkenazi Jewish
European (non-Finnish)
	Southern European
	North-western European
	Bulgarian
East Asian
	Japanese
	Korean
	Other East Asian
European (Finish)
South Asian
Other

Genotype Quality Metrics

Site Quality Metrics

Metric
BaseQRankSum	-2.188
ClippingRankSum	0.000
DP	37771
FS	0.000
InbreedingCoeff	0.001
MQ	60.000
MQRankSum	0.000
QD	13.990
ReadPosRankSum	0.275
SiteQuality	6871.46
SOR	0.701
VQSLOD	7.980