QSER1

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	4 clinvar	1 clinvar	6
missense			208 clinvar	11 clinvar		219
nonsense			2 clinvar			2
start loss						0
frameshift			2 clinvar			2
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	217	15	1	233

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 14 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001076786.3	RefSeq	NP_001070254.2	13	MANE Select
ENST00000650167.2	Ensembl	ENSP00000496900.1	13	MANE Select
NM_001416036.1	RefSeq	NP_001402965.1	12	Standard
NM_001416037.1	RefSeq	NP_001402966.1	12	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000399302
Coding exons: 11
Length: 100139
Individuals with no LoFs: 124769
Homozygous LoFs: 0
Heterozygous LoFs: 23
Defined: 124792
p: 0.0000922

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.34	750	860	0.872	0.0000414	11271
Missense (PolyPhen)		170	242.87	0.69998		3229
Synonymous	1.45	282	315	0.896	0.0000154	3459
Loss of Function	6.82	8	69.3	0.115	0.00000344	907

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0.000098	0.000093	rare
European (Non-Finnish)	0.00016	0.00013	rare
South Asian	0.00013	0.000098	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0970

Intolerance Scores

LoFtool: 0.218
RVIS EVS: -0.23
RVIS percentile EVS: 36.36

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.158

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium