PKHD1L1

Chr 8

PKHD1 like 1

Also known as: DFNB124, PKHDL1

NCBI Gene: 93035ENSG00000205038UniProt: Q86WI1

Predicted to enable signaling receptor activity. Predicted to be involved in immune response. Predicted to act upstream of or within sensory perception of sound. Predicted to be located in cytosol; extracellular space; and membrane. Implicated in autosomal recessive nonsyndromic deafness. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
LOEUF 1.06
Clinical Summary— PKHD1L1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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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?
1.06LOEUF
pLI 0.000
Z-score 0.86
OE 0.93 (0.82–1.06)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.72Z-score
OE missense 1.04 (1.01–1.08)
2145 obs / 2053.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.93 (0.82–1.06)
0≤0.351.4
Missense OE?1.04 (1.01–1.08)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 174 / 186.6Missense obs/exp: 2145 / 2053.3Syn Z: -0.63

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PKHD1L1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients