PCDH20
Chr 13protocadherin 20
Also known as: PCDH13
The protein is a potential calcium-dependent cell-adhesion protein containing 6 extracellular cadherin domains that is thought to establish and maintain specific cell-cell connections in the brain. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, affecting neurological development. The gene is highly constrained against loss-of-function variants (pLI 0.86, LOEUF 0.38), indicating intolerance to protein-disrupting mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
217 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 | 65 | 0 | 65 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 130 | 10 | 0 | 140 |
Likely Benign | 0 | 7 | 1 | 0 | 8 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 1 | |||
| Total | 0 | 137 | 77 | 0 | 215 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PCDH20 · 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