OVCA2
Chr 17OVCA2 serine hydrolase domain containing
The OVCA2 protein functions as an ester hydrolase with specificity for long-chain alkyl ester substrates and exhibits activity in response to retinoic acid signaling. Currently, no definitive pediatric neurological disorders have been established to result from OVCA2 mutations based on the available data. The gene shows low constraint against loss-of-function variants (high LOEUF score), suggesting tolerance to inactivating 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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
OVCA2 · 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