UMODL1
Chr 21uromodulin like 1
The protein is predicted to bind calcium ions and inhibit peptidases, with predicted roles in cellular responses and ovarian follicle development. This gene shows extremely low constraint against loss-of-function variants (pLI near zero), suggesting that complete loss of function may be well-tolerated. No established human disease associations have been reported for UMODL1 mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
427 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 | 78 | 0 | 78 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 274 | 5 | 0 | 279 |
Likely Benign | 0 | 32 | 2 | 9 | 43 |
Benign | 0 | 0 | 2 | 3 | 5 |
Conflicting | — | 1 | |||
| Total | 0 | 306 | 89 | 12 | 408 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
UMODL1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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