PIH1D2

Chr 11

PIH1 domain containing 2

Also known as: DNAAF15

NCBI Gene: 120379 ENSG00000150773 UniProt: Q8WWB5

Enables small GTPase binding activity. Predicted to be involved in box C/D snoRNP assembly and rRNA processing. Predicted to be part of R2TP complex and ribonucleoprotein complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.48

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?

1.48LOEUF

pLI 0.000

Z-score 0.22

OE 0.93 (0.61–1.48)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.60Z-score

OE missense 0.86 (0.75–1.00)

133 obs / 154.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.93 (0.61–1.48)

0≤0.351.4

Missense OE?0.86 (0.75–1.00)

0≤0.61.4

Synonymous OE?0.88

0≤1.21.6

LoF obs/exp: 13 / 13.9Missense obs/exp: 133 / 154.0Syn Z: 0.71

Background carrier burden — how many people carry a rare variant somewhere in PIH1D2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 260

354 rare PASS variants

Rare truncating (LoF)

1 in 1,900

80 rare PASS variants

Rare synonymous (reference)

1 in 430

129 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for PIH1D2. 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 310	1 in 2,000
South Asian	~43k	1 in 390	1 in 2,900
Remaining (unassigned)	~30k	1 in 220	1 in 1,400
European (Finnish)	~27k	1 in 1,200	≈ 1 in 8,900
Admixed American	~22k	1 in 310	1 in 1,200
African / African American	~21k	1 in 260	1 in 1,000
East Asian	~20k	1 in 110	1 in 1,700
Ashkenazi Jewish	~13k	1 in 2,200	1 in 1,900
Middle Eastern	~2,884	1 in 320	≈ 1 in 710

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): 5 of 5 coding exons well covered in gnomAD exomes. Genomes: 4 of 5 (exon 6 below).? see exons ↓