UCKL1
Chr 20uridine-cytidine kinase 1 like 1
Also known as: UCK1L, URKL1
The protein encoded by this gene is a uridine kinase that catalyzes the phosphorylation of uridine to uridine monophosphate, contributing to nucleotide metabolism. Mutations in UCKL1 cause microcephaly, developmental delay, and seizures with autosomal recessive inheritance. The gene shows extreme intolerance to loss-of-function variants, indicating that complete loss of protein function is likely pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
137 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 29 | 0 | 29 |
Likely Pathogenic | 0 | 0 | 8 | 0 | 8 |
VUS | 0 | 66 | 13 | 0 | 79 |
Likely Benign | 0 | 2 | 0 | 0 | 2 |
Benign | 0 | 0 | 4 | 0 | 4 |
| Total | 0 | 68 | 54 | 0 | 122 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
UCKL1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools