PRSS56
Chr 2ARserine protease 56
Also known as: MCOP6
This gene encodes a serine protease with trypsin-like activity that is required for normal eye development. Mutations cause autosomal recessive isolated microphthalmia (microphthalmia 6), presenting as congenital underdevelopment of one or both eyes. The gene is not highly constrained against loss-of-function variants in the general population.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
305 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 | 8 | 5 | 35 | 0 | 48 |
Likely Pathogenic | 2 | 6 | 1 | 0 | 9 |
VUS | 0 | 131 | 12 | 0 | 143 |
Likely Benign | 0 | 5 | 20 | 22 | 47 |
Benign | 0 | 6 | 27 | 6 | 39 |
Conflicting | — | 3 | |||
| Total | 10 | 153 | 95 | 28 | 289 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PRSS56 · 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