ANKDD1A

Chr 15

ankyrin repeat and death domain containing 1A

NCBI Gene: 348094 ENSG00000166839 UniProt: Q495B1

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

Research

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

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.28

LOEUF

GOF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.28LOEUF

pLI 0.000

Z-score 0.36

OE 0.93 (0.68–1.28)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.65Z-score

OE missense 0.90 (0.81–0.99)

284 obs / 316.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.93 (0.68–1.28)

0≤0.351.4

Missense OE?0.90 (0.81–0.99)

0≤0.61.4

Synonymous OE?1.09

0≤1.21.6

LoF obs/exp: 26 / 28.1Missense obs/exp: 284 / 316.3Syn Z: -0.83

Background carrier burden — how many people carry a rare variant somewhere in ANKDD1A?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 44

738 rare PASS variants

Rare truncating (LoF)

1 in 710

131 rare PASS variants

Rare synonymous (reference)

1 in 120

304 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ANKDD1A. 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 75	1 in 760
South Asian	~43k	1 in 56	1 in 430
Remaining (unassigned)	~30k	1 in 53	1 in 830
European (Finnish)	~27k	1 in 240	1 in 1,900
Admixed American	~22k	1 in 49	1 in 660
African / African American	~21k	1 in 49	1 in 620
East Asian	~20k	1 in 66	1 in 480
Ashkenazi Jewish	~13k	1 in 290	≈ 1 in 3,300
Middle Eastern	~2,884	1 in 62	1 in 360

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): 13 of 15 coding exons well covered in gnomAD exomes; exon 15 poorly covered; exon 1 marginal. Genomes: all 15.? see exons ↓