KIAA0319L

Chr 1

KIAA0319 like

Also known as: AAVR, AAVRL

NCBI Gene: 79932 ENSG00000142687 UniProt: Q8IZA0 OMIM: 613535

The protein is predicted to be involved in neuron migration and may play a role in axon guidance through interaction with RTN4R. This gene has not been definitively associated with human disease, though it is highly constrained against loss-of-function variants (LOEUF 0.449), suggesting it may be essential for normal development. Further research is needed to establish any clinical phenotypes associated with KIAA0319L variants.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to be involved in neuron migration. Predicted to act upstream of or within several processes, including flagellated sperm motility; proacrosomal vesicle fusion; and receptor-mediated endocytosis of virus by host cell. Located in Golgi apparatus; cytoplasmic vesicle; and nucleolus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

DNmechanismLOEUF 0.45

Clinical Summary— KIAA0319L

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.30) despite low pLI — interpret in context.

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ClinVar Variants

96 VUS of 138 total submissions

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.45LOEUF

pLI 0.001

Z-score 4.81

OE 0.30 (0.20–0.45)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

1.56Z-score

OE missense 0.81 (0.75–0.88)

455 obs / 558.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.30 (0.20–0.45)

0≤0.351.4

Missense OE?0.81 (0.75–0.88)

0≤0.61.4

Synonymous OE?0.84

0≤1.21.6

LoF obs/exp: 16 / 54.2Missense obs/exp: 455 / 558.9Syn Z: 1.88

This gene — mechanism propensity

0.6938th %ile

GOF

0.6247th %ile

LOF

0.3260th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

138 submitted variants in ClinVar

ClinVar

Classification Summary

VUS96

Likely Benign19

Benign5

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	96	0	0	96
Likely Benign	15	0	4	19
Benign	1	3	1	5
Total	112	3	5	120

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

9 pathogenic / likely-pathogenic (of 17) ClinVar copy-number / structural variants overlap KIAA0319L — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →