HHLA1
Chr 8HHLA1 neighbor of OC90
Also known as: PLA2L
The HHLA1 protein is predicted to be located in the extracellular region, but its specific function remains unclear. Clinical associations with human disease have not been established for mutations in this gene. The gene shows tolerance to loss-of-function variation (pLI near zero, LOEUF 1.222), suggesting it may not be essential for normal development.
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
167 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 | 54 | 0 | 54 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 85 | 13 | 0 | 98 |
Likely Benign | 0 | 8 | 0 | 1 | 9 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 93 | 68 | 1 | 162 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
HHLA1 · 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 →No open access results found
External Resources
Links to major genomics databases and tools