GVQW3

Chr 11

GVQW motif containing 3

NCBI Gene: 100506127 ENSG00000179240 UniProt: Q3ZCU0

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.51

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.51LOEUF

pLI 0.005

Z-score 0.73

OE 0.68 (0.33–1.51)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

1.24Z-score

OE missense 0.67 (0.56–0.81)

75 obs / 111.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.68 (0.33–1.51)

0≤0.351.4

Missense OE?0.67 (0.56–0.81)

0≤0.61.4

Synonymous OE?0.72

0≤1.21.6

LoF obs/exp: 4 / 5.9Missense obs/exp: 75 / 111.8Syn Z: 1.37

Background carrier burden — how many people carry a rare variant somewhere in GVQW3?

gnomAD v4 · ~692k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 70

432 rare PASS variants

Rare truncating (LoF)

1 in 790

62 rare PASS variants

Rare synonymous (reference)

1 in 350

132 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for GVQW3. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~539k	1 in 100	1 in 2,900
South Asian	~40k	1 in 78	1 in 890
Remaining (unassigned)	~29k	1 in 83	1 in 1,100
African / African American	~21k	1 in 64	1 in 330
East Asian	~18k	1 in 120	1 in 570
Admixed American	~18k	1 in 94	1 in 1,400
European (Finnish)	~17k	1 in 460	≈ 1 in 8,400
Ashkenazi Jewish	~13k	1 in 200	none seen
Middle Eastern	~2,850	1 in 130	≈ 1 in 2,800

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 1 of 2 coding exons well covered in gnomAD exomes; exon 2 poorly covered. Genomes: all 2.? see exons ↓