VWA7

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	1 clinvar		2
missense			123 clinvar	5 clinvar		128
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	127	6	0	133

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_025258.3	RefSeq	NP_079534.2	16	MANE Select
ENST00000375688.5	Ensembl	ENSP00000364840.4	16	MANE Select
ENST00000999130.1	Ensembl	ENSP00000668947.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

biological_process

Molecular Function

molecular_function

Cellular Component

cellular_component
extracellular region

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000375688
Coding exons: 16
Length: 11742
Individuals with no LoFs: 112459
Homozygous LoFs: 327
Heterozygous LoFs: 12962
Defined: 125748
p: 0.0543

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.01	449	514	0.874	0.0000302	5644
Missense (PolyPhen)		137	176.13	0.77781		2098
Synonymous	1.79	185	219	0.846	0.0000130	1989
Loss of Function	2.20	23	37.6	0.612	0.00000217	363

Population LoF Frequency

Population	CAF	p-value	Status
African	0.031	0.027	notable
Latino/Admixed American	0.031	0.028	notable
Ashkenazi Jewish	0.013	0.012	notable
East Asian	0.0056	0.0055	notable
Finnish	0.17	0.15	notable
European (Non-Finnish)	0.074	0.067	notable
South Asian	0.035	0.031	notable
Other	0.061	0.055	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 0.85
RVIS percentile EVS: 88.48

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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