KCTD14

Chr 11

potassium channel tetramerization domain containing 14

NCBI Gene: 65987 ENSG00000151364 UniProt: Q9BQ13

Predicted to be involved in protein homooligomerization. [provided by Alliance of Genome Resources, Jul 2025]

Research

Predicted to be involved in protein homooligomerization. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.77

LOEUF

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?

1.77LOEUF

pLI 0.002

Z-score 0.21

OE 0.89 (0.43–1.77)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.08Z-score

OE missense 0.98 (0.86–1.12)

155 obs / 157.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.89 (0.43–1.77)

0≤0.351.4

Missense OE?0.98 (0.86–1.12)

0≤0.61.4

Synonymous OE?1.04

0≤1.21.6

LoF obs/exp: 4 / 4.5Missense obs/exp: 155 / 157.9Syn Z: -0.23

Background carrier burden — how many people carry a rare variant somewhere in KCTD14?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 100

363 rare PASS variants

Rare truncating (LoF)

1 in 3,000

47 rare PASS variants

Rare synonymous (reference)

1 in 280

155 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for KCTD14. 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)	~556k	1 in 160	1 in 690
South Asian	~43k	1 in 110	1 in 410
Remaining (unassigned)	~30k	1 in 130	1 in 2,300
European (Finnish)	~27k	1 in 390	1 in 3,400
Admixed American	~22k	1 in 160	1 in 2,000
African / African American	~21k	1 in 96	1 in 2,300
East Asian	~20k	1 in 100	1 in 2,200
Ashkenazi Jewish	~13k	1 in 1,100	1 in 930
Middle Eastern	~2,884	1 in 130	none seen

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): All 2 coding exons well covered in gnomAD exomes and genomes.? see exons ↓