NKAPD1

Chr 11

NKAP domain containing 1

Also known as: Ahed, C11orf57

NCBI Gene: 55216 ENSG00000150776 UniProt: Q6ZUT1

Enables identical protein binding activity. [provided by Alliance of Genome Resources, Jul 2025]

Research

Enables identical protein binding activity. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.61

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.61LOEUF

pLI 0.307

Z-score 2.51

OE 0.24 (0.11–0.61)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.76Z-score

OE missense 0.83 (0.71–0.96)

126 obs / 152.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.24 (0.11–0.61)

0≤0.351.4

Missense OE?0.83 (0.71–0.96)

0≤0.61.4

Synonymous OE?0.86

0≤1.21.6

LoF obs/exp: 3 / 12.6Missense obs/exp: 126 / 152.2Syn Z: 0.78

Background carrier burden — how many people carry a rare variant somewhere in NKAPD1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 190

332 rare PASS variants

Rare truncating (LoF)

1 in 3,800

52 rare PASS variants

Rare synonymous (reference)

1 in 460

95 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for NKAPD1. 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 210	1 in 3,600
South Asian	~43k	1 in 160	1 in 960
Remaining (unassigned)	~30k	1 in 170	≈ 1 in 7,500
European (Finnish)	~27k	1 in 400	≈ 1 in 8,900
Admixed American	~22k	1 in 320	≈ 1 in 5,600
African / African American	~21k	1 in 180	≈ 1 in 8,300
East Asian	~20k	1 in 140	≈ 1 in 20,000
Ashkenazi Jewish	~13k	1 in 310	none seen
Middle Eastern	~2,884	1 in 170	≈ 1 in 1,400

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 5 coding exons well covered in gnomAD exomes and genomes.? see exons ↓