PDRG1

Chr 20

p53 and DNA damage regulated 1

Also known as: C20orf126, PDRG

NCBI Gene: 81572 ENSG00000088356 UniProt: Q9NUG6 OMIM: 610789

PDRG1 encodes a protein that binds unfolded proteins and is involved in chaperone-mediated protein folding as part of the RPAP3/R2TP/prefoldin-like complex. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly. The gene is not highly constrained against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable unfolded protein binding activity. Predicted to be involved in protein folding and protein stabilization. Predicted to be located in cytoplasm. Predicted to be part of prefoldin complex. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.55

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.55LOEUF

pLI 0.000

Z-score 0.51

OE 0.80 (0.44–1.55)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.43Z-score

OE missense 0.86 (0.69–1.06)

59 obs / 69.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.80 (0.44–1.55)

0≤0.351.4

Missense OE?0.86 (0.69–1.06)

0≤0.61.4

Synonymous OE?0.88

0≤1.21.6

LoF obs/exp: 6 / 7.5Missense obs/exp: 59 / 69.0Syn Z: 0.50

Background carrier burden — how many people carry a rare variant somewhere in PDRG1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 390

182 rare PASS variants

Rare truncating (LoF)

1 in 7,100

31 rare PASS variants

Rare synonymous (reference)

1 in 510

69 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for PDRG1. 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 430	1 in 9,300
South Asian	~43k	1 in 970	1 in 2,000
Remaining (unassigned)	~30k	1 in 390	≈ 1 in 7,400
European (Finnish)	~27k	1 in 570	≈ 1 in 6,700
Admixed American	~22k	1 in 490	≈ 1 in 10,000
African / African American	~21k	1 in 420	≈ 1 in 4,200
East Asian	~20k	1 in 210	1 in 3,200
Ashkenazi Jewish	~13k	≈ 1 in 6,500	none seen
Middle Eastern	~2,884	1 in 350	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 5 coding exons well covered in gnomAD exomes and genomes.? see exons ↓